OpenMed/multicare-articles huggingface dataset:
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
Authors: Simone Gana, Angelo Valetto, Benedetta Toschi, Irene Sardelli, Susanna Cappelli, Diego Peroni, Veronica Bertini
Journal: Front Genet (2019)
Keywords: 6q23 deletion, eya1, eya4, array cgh, otofaciocervical syndrome
MeSH terms: Case Reports

We report on a 34-year-old woman and her mother who both have clinical features suggestive for otofaciocervical syndrome (OTFCS), a disorder characterized by a combination of facial dysmorphisms, ear abnormalities with hearing loss, and shoulder girdle anomalies. OTFCS presents overlapping features with branchiootorenal spectrum disorders, including branchiootorenal syndrome and branchiootic syndrome. These disorders have been described as clinically distinct entities, but molecular studies have shown that all the causative genes belong to the Pax-Six-Eya-Dach network (PSEDN). So far, the genetic diagnosis of OTFCS has been performed only in very few cases and involves two genes, EYA1 and PAX1; thus, it is likely that other genes have still to be identified. In the present patient, array CGH analysis showed a 3.7-Mb deletion in 6q23; a smaller 1.9-Mb deletion in the same region was detected in her mother. The minimal overlapping region harbors the EYA4 gene. The cases here described are interesting, since they all showed the typical clinical features of OTFCS, associated with a deletion in 6q23.2. Even if we cannot exclude the contribution of other genes to the phenotype, EYA4 is a good candidate for OTFCS according to its pattern of expression, its sequence similarity to EYA1, and its involvement in PSEDN.
Case Report: Recurrent Left Posterior Fascicular Ventricular Tachycardia in a Newborn
Authors: Lu Zhao, Lin Wu, Qu-Ming Zhao, Xue-Cun Liang
Journal: Front Pediatr (2021)
Keywords: arrhythmia, fascicular ventricular tachycardia, infant, neonate, tachycardia
MeSH terms: Case Reports

Left posterior fascicular ventricular tachycardia (LPFVT) is extremely rare in neonates. We described a 17-day-old girl with LPFVT who was initially misdiagnosed as supraventricular tachycardia (SVT). Eventually, she was successfully treated by amiodarone infusion followed by oral amiodarone with propranolol for 9 months, and LPFVT spontaneously resolved after a 1-year follow-up. This case report illustrated the basic principles and caveats in differential diagnosis of LPFVT in the neonatal age group. With proper diagnosis and therapy, neonatal LPFVT might regress in the first year of life.
A 40-year-old woman who developed jaundice during therapy for thyrotoxicosis
Authors: Chukwuma Ogbonna Ekpebegh, Naomi Sharlene Levitt
Journal: PLoS Med (2006)
MeSH terms: Antithyroid Agents / adverse effects, Carbimazole / adverse effects, Jaundice / chemically induced, Thyrotoxicosis / drug therapy, Case Reports, Adult, Female, Humans, Antithyroid Agents, Carbimazole

Ekpebegh and Levitt discuss the differential diagnosis of jaundice in patients with thyrotoxicosis.
Acute Mountain Sickness Is Associated With a High Ratio of Endogenous Testosterone to Estradiol After High-Altitude Exposure at 3,700 m in Young Chinese Men
Authors: Xiao-Han Ding, Yanchun Wang, Bin Cui, Jun Qin, Ji-Hang Zhang, Rong-Sheng Rao, Shi-Yong Yu, Xiao-Hui Zhao, Lan Huang
Journal: Front Physiol (2019)
Keywords: acute mountain sickness, erythropoiesis, estradiol, high-altitude exposure, testosterone

Background: A large proportion of populations suffer from acute mountain sickness (AMS) after exposure at high altitude. AMS is closely related with age and gender implying that the sex hormones may play critical roles in AMS. Our observational study aimed to identify the association between the endogenous testosterone (T), estradiol (E2) and AMS. Methods: A total of 113 subjects were recruited in 2012. The participants were evaluated at 500 m and after acute (1 day) and short-term (7 days) high-altitude exposure at 3,700 m. The subjects also completed a case report form questionnaire and underwent blood pressure measurements and an echocardiography examination. The red blood cell (RBC) count, Hb concentration ([Hb]), hematocrit (HCT), E2, T, and erythropoietin (EPO) were measured. Results: Upon acute high-altitude exposure, E2 and EPO were significantly lower in AMS+ group, and T/E2 and stroke volume were higher. On the 1st day, AMS score correlated positively with the T/E2 ratio while it negatively correlated with E2. After 7 days at 3,700 m, the AMS+ subjects had higher erythropoietic parameters: EPO, T, and T/E2 were significantly higher in the AMS+ group. [Hb], RBC count, HCT, EPO, T and T/E2 were also correlated with AMS score. EPO, HCT, and the RBC count were also correlated with T/E2. Regression analyses indicated that T/E2 significantly correlated to AMS score and T/E2 on the 1st day was an independent predictor for AMS on the 7th day. Conclusion: AMS was correlated with T/E2 ratio and EPO. After short-term exposure, higher T/E2 may contribute to AMS together with EPO via erythropoiesis. Furthermore, T/E2 level at high altitude in the early stage was an independent predictor for AMS in the latter stage.
The Clinical Manifestations of Femoral-Facial Syndrome in an Orthopaedic Patient
Authors: Abdullah Ghali, Luis Salazar, David Momtaz, Gautham Prabhakar, Preston Richier, Anil Dutta
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Femoral-facial syndrome (FFS) is an exceedingly rare congenital disorder of unknown etiology related to maternal diabetes during pregnancy. It is characterized by variations of bilateral femoral hypoplasia and facial anomalies. We discuss an interesting case of a 3-year-old girl with FFS with an extensive surgical history who presented to a pediatric orthopaedic clinic with ankle pains and absent femurs. As this disease process is not frequently encountered, it is imperative for the practicing clinician to be aware of the various presentations. In this study, we discuss the different orthopaedic presentations in the literature and discuss various management recommendations.
Fatal Meningitis in a 14-Month-Old with Currarino Triad
Authors: Hanan Mohammed Al Qahtani, Khalid Suliman Aljoqiman, Hisham Arabi, Hesham Al Shaalan, Sumit Singh
Journal: Case Rep Radiol (2016)

We report a case of a 14-month-old girl with undiagnosed Currarino triad presenting acutely with meningitis caused by enteric commensals. Head CT demonstrated a large pneumocephalus. A fistulous neurenteric tract through a presacral mass was present on spine MRI and abdominal CT. The patient had a history of constipation for the last three months. However, an underlying diagnosis of Currarino triad had not been suspected. In retrospect, a sickle-shaped sacral anomaly was present on a previous abdominal radiograph. The patient succumbed to complications of meningitis. The purpose of the case report is to highlight the potentially fatal complication of Currarino triad and sensitize radiologists to look actively for sacral anomalies on abdominal radiographs, especially of children with chronic constipation.
Severe Clostridial Pyomyoma following an Abortion Does Not Always Require Surgical Intervention
Authors: Daphna Stroumsa, Eliel Ben-David, Nurith Hiller, Drorith Hochner-Celnikier
Journal: Case Rep Obstet Gynecol (2011)
MeSH terms: Case Reports

Background. Clostridial infection following pregnancy may be fatal, and surgery is considered as the treatment of choice. We suggest a conservative management in selected cases when preservation of fertility is of major importance. Case. A 41-year-old primigravida presented with abdominal pain and fever, one day following dilatation and curettage at 20 weeks of gestation. Her abdomen was diffusely tender, with a uterus enlarged to 20 weeks' gestation. Laboratory studies were consistent with sepsis and hemolysis. CT demonstrated a gas-containing mass compressing the uterine cavity, and presence of air in pelvic veins. Blood cultures were positive for Clostridium perfringens. The patient was treated conservatively, with IV antibiotics and fluid resuscitation, and recovered. Conclusion. In selected cases of infected myoma complicated by clostridial sepsis, refraining from surgical intervention is a possible therapeutic approach.
Rural Post-Earthquake Resettlement Mode Choices: Empirical Case Studies of Sichuan, China
Authors: Lei Zhao, Sifan Zhou, Jinglin Zhong, Yibin Ao, Yan Wang, Tong Wang, Yunfeng Chen
Journal: Front Public Health (2022)
Keywords: changning earthquake, lushan earthquake, wenchuan earthquake, binary logistic regression, factor analysis, influencing factor, post-earthquake resettlement mode
MeSH terms: Disasters, Earthquakes, Research Support, Non-U.S. Gov't, China, Humans, Quality of Life, Rural Population

Earthquakes occur frequently in rural areas of Sichuan, China, causing huge damage and high mortality. The built environment plays a significant role in providing residents with safe and resilient settlements in such areas. There is yet little research on how rural families in developing countries cope with geological disasters like earthquakes, and how built environmental factors would influence their resettlement choices which would directly affect their quality of life afterward. Urban planning activities should be accompanied by these insights to design and create human-centric resettlements accordingly. In this study, the resettlement choices after three major earthquakes in Sichuan were studied for this reason. Random sampling and face-to-face questionnaire surveys were combined with factor analysis and binary logistic regression to understand the resettlement modes desired by the residents and the influencing factors. The results show that residents who have lived in their current places long and whose houses were not built recently are more likely to choose the in-situ resettlement. Accessibility to employment and public services has a significant impact on residents' choice of in-situ resettlement or reallocated resettlement, and so does the previous resettlement experience. The research results can provide useful suggestions for Chinese rural area post-earthquake resettlement planning following a human-centric approach with empirical data.
Pylorus Preserving Pancreaticoduodenectomy After Prior Esophagogastrectomy
Authors: Rachel Appelbaum, Daniel C Kuehler, Jeffrey Brodsky
Journal: J Pancreat Cancer (2020)
Keywords: adenocarcinoma, carcinoma, pancreatic cancer, surgery
MeSH terms: Case Reports

Background: As treatment of esophageal carcinomas continues to improve, we have seen an increasing population of long-term survivors giving rise to the observation of additional primary malignancies not previously seen. Esophagogastrectomy for previously treated esophageal carcinoma presents unique anatomic changes providing further technical difficulties for surgical management of new primary malignancies. Presentation: A 65-year-old male with a history of esophagogastrectomy for esophageal adenocarcinoma presents with a pancreatic head mass consistent with pancreatic adenocarcinoma. Our case report describes a pylorus sparing pancreaticoduodenectomy with preservation of the right gastric and right gastroepiploic vessels in order to preserve blood supply to the gastric conduit. Conclusion: Here we demonstrate that in select cases where location of the pancreatic head tumor is favorable, pancreaticoduodenectomy can be performed in the context of prior esophagogastrectomy with preservation of the native blood supply to the gastric conduit. Pancreaticoduodenectomy may have yet been possible if the tumor involved the gastroduodenal artery via vascular reconstruction to the right gastroepiploic artery or sacrifice of the gastric conduit with reconstruction using small or large intestine.
Ablating the ventricular insertion of atrio-fascicular mahaim fiber: could be performed safely?
Authors: Valentino Ducceschi, Raffaele Vitale, Ewa Anna Sokola, Luca Ottaviano, Raffaele Sangiuolo, Giovanni Gregorio
Journal: Indian Pacing Electrophysiol J (2009)
Keywords: mahaim pathway, atrio-fascicular accessory pathways

We report a patient who underwent radiofrequency ablation of the distal insertion of an atrio-fascicular accessory pathway with decremental properties because of inability to map a suitable potential alongside the tricuspid annulus. Small, discrete potentials resembling those of Purkinje fiber were found at right ventricular apex. All these potentials showed early activation during tachycardia preceding the QRS onset of various degree. Pace mapping helped to localize the presumed main distal insertion of the atrio-fascicular accessory pathway in a region where damage of the His-purkinje system may ensue. This case report describes catheter ablation of an atriofascicular accessory pathway by targeting its distal (ventricular) insertion site.
Complete remission of human parvovirus b19 associated symptoms by loxoprofen in patients with atopic predispositions
Authors: Itsuro Kazama, Naoko Sasagawa, Toshiyuki Nakajima
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Two cases of women in their thirties with past histories of atopic dermatitis and allergic rhinitis developed a low grade fever, followed by a butterfly-shaped erythema, swelling of their fingers, and polyarthralgia. Despite such symptoms that overlap with those of systemic lupus erythematosus (SLE), the diagnostic criteria for SLE were not fulfilled. Due to positive results for human parvovirus B19 (HPV-B19) IgM antibodies in the serum, diagnoses of HPV-B19 infection were made in both cases. Although acetaminophen failed to improve their deteriorating symptoms, a nonsteroidal anti-inflammatory drug (NSAID), loxoprofen, completely removed the symptoms immediately after the administration. In those cases, since the patients were predisposed to atopic disorders, an increased immunological response based on the lymphocyte hypersensitivity was likely to be involved in the pathogenesis. The immunomodulatory property of NSAID was thought to repress such lymphocyte activity and thus provided a rapid and sustained remission of the disease.
Nodular regenerative hyperplasia secondary to neoadjuvant chemotherapy for colorectal liver metastases
Authors: Maartje A J van den Broek, Steven W M Olde Damink, Ann Driessen, Cornelis H C Dejong, Marc H A Bemelmans
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Liver resection is the only curative treatment for patients with colorectal liver metastases (CLMs). Neoadjuvant chemotherapy can improve resectability but has a potential harmful effect on the nontumorous liver. Patients with chemotherapy-induced hepatic injury undergoing liver surgery have higher risks of post-resectional morbidity. We present two cases of patients without pre-existent liver disease treated with oxaliplatin-based chemotherapy followed by surgical resection of their CLMs. Their intra-operative liver specimen showed morphologic abnormalities characteristic of nodular regenerative hyperplasia (NRH). NRH led to portal hypertension in both patients that resulted in deleterious post-resectional complications and death of one patient. Interestingly, the other patient underwent two repeat nonanatomic liver resections because of recurrent CLMs. The intra-operative liver specimen still showed signs of NRH and sinusoidal congestion, but the post-resectional courses were uneventful. Nevertheless, caution is recommended in patients with suspected NRH. Careful volumetric analysis should guide the operative strategy. When future remnant liver volume is regarded insufficient, portal vein embolization or restrictive surgery should be considered.
Somatic experiencing: using interoception and proprioception as core elements of trauma therapy
Authors: Peter Payne, Peter A Levine, Mardi A Crane-Godreau
Journal: Front Psychol (2015)
Keywords: autonomic nervous system, core response network, interoception, meditation, premotor system, somatic experiencing, stress, trauma

Here we present a theory of human trauma and chronic stress, based on the practice of Somatic Experiencing(®) (SE), a form of trauma therapy that emphasizes guiding the client's attention to interoceptive, kinesthetic, and proprioceptive experience. SE™ claims that this style of inner attention, in addition to the use of kinesthetic and interoceptive imagery, can lead to the resolution of symptoms resulting from chronic and traumatic stress. This is accomplished through the completion of thwarted, biologically based, self-protective and defensive responses, and the discharge and regulation of excess autonomic arousal. We present this theory through a composite case study of SE treatment; based on this example, we offer a possible neurophysiological rationale for the mechanisms involved, including a theory of trauma and chronic stress as a functional dysregulation of the complex dynamical system formed by the subcortical autonomic, limbic, motor and arousal systems, which we term the core response network (CRN). We demonstrate how the methods of SE help restore functionality to the CRN, and we emphasize the importance of taking into account the instinctive, bodily based protective reactions when dealing with stress and trauma, as well as the effectiveness of using attention to interoceptive, proprioceptive and kinesthetic sensation as a therapeutic tool. Finally, we point out that SE and similar somatic approaches offer a supplement to cognitive and exposure therapies, and that mechanisms similar to those discussed in the paper may also be involved in the benefits of meditation and other somatic practices.
Acetylcholine receptor binding antibody-associated myasthenia gravis, myocarditis, and rhabdomyolysis induced by tislelizumab in a patient with colon cancer: A case report and literature review
Authors: Shengnan Wang, Danping Peng, Hao Zhu, Wanwan Min, Mengru Xue, Rui Wu, Yanqing Shao, Lin Pan, Mingqin Zhu
Journal: Front Oncol (2022)
Keywords: myasthenia gravis, immune-related adverse events, locally advanced colorectal cancer, myocarditis, myositis, tislelizumab
MeSH terms: Case Reports

Despite the intriguing therapeutic prospects offered by immune checkpoint inhibitors (ICIs), immune-related adverse events (irAEs) become an increasingly important safety issue. Herein, we report a patient with locally advanced colorectal cancer (LACRC) who received anti-programmed cell death protein 1 (PD-1) (tislelizumab) therapy, then developed weakness of the limbs and drooping eyelids. He experienced sequential irAEs including severe myasthenia gravis, myocarditis, and rhabdomyolysis. Although many irAEs caused by tislelizumab have been reported, the cooccurrence of severe myasthenia gravis, myocarditis, and rhabdomyolysis caused by tislelizumab has not been described. The patient responded well to methylprednisolone and intravenous immunoglobulin therapy. This case illustrates the severe toxicity caused by ICIs, highlighting the importance of early prevention, early diagnosis, and appropriate management of irAEs. Multidisciplinary discussions should be held to improve the prognosis of patients.
Intra-Abdominal Actinomycosis Mimicking Malignant Abdominal Disease
Authors: Ali Ridha, Njideka Oguejiofor, Sarah Al-Abayechi, Emmanuel Njoku
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Abdominal actinomycosis is a rare infectious disease, caused by gram positive anaerobic bacteria, that may appear as an abdominal mass and/or abscess (Wagenlehner et al. 2003). This paper presents an unusual case of a hemodynamically stable 80-year-old man who presented to the emergency department with 4 weeks of worsening abdominal pain and swelling. He also complains of a 20-bound weight loss in 2 months. A large tender palpable mass in the right upper quadrant was noted on physical exam. Laboratory studies showed a normal white blood cell count, slightly decreased hemoglobin and hematocrit, and mildly elevated total bilirubin and alkaline phosphatase. A CT with contrast was done and showed a liver mass. Radiology and general surgery suspected malignancy and recommended CT guided biopsy. The sample revealed abundant neutrophils and gram positive rods. Cytology was negative for malignancy and cultures eventually grew actinomyces. High dose IV penicillin therapy was given for 4 weeks and with appropriate response transitioned to oral antibiotic for 9 months with complete resolution of symptoms.
Successful rituximab treatment of granulomatosis with polyangiitis with cranial neuropathies
Authors: Maho Nakazawa, Katsuya Suzuki, Hidekata Yasuoka, Kunihiro Yamaoka, Tsutomu Takeuchi
Journal: Inflamm Regen (2018)
Keywords: b-lymphocytes, cranial neuropathies, drug resistance, granulomatosis with polyangiitis, rituximab
MeSH terms: Case Reports

Background:
In granulomatosis with polyangiitis (GPA), peripheral nerve involvement is common but central nervous system (CNS) involvement is extremely rare and treatment strategy has not been established. We report a case of intravenous cyclophosphamide (IVCY)-resistant GPA with associated cranial neuropathies that was successfully treated with rituximab (RTX).
Case presentation:
A 37-year-old man with intractable sinusitis had several months of headache, hoarseness, and dysphagia; a month of right-sided deafness and nasal bleeding; and a week of dysarthria, steppage gait, and numbness in the right L5 distribution. A magnetic resonance imaging (MRI) examination of the head showed an infiltrative lesion in the right skull base encasing the carotid sheath. Computed tomography (CT) scan of the chest revealed a 23 mm nodule in the left upper lobe. Histology was inconclusive. Therefore, the patient was diagnosed as GPA. He was treated with glucocorticoids (GC) and IVCY. Three months later, he was readmitted for recurrence of headache and new left-sided hearing loss. He was treated with GC and RTX, and a 1-year remission followed. The molecular mechanism of RTX is not fully understood. In this case, RTX was more effective at rapidly and strongly suppressing B cells than CY. Since the B cell count was proportional to the patient's clinical manifestations, B cells might represent a suitable target for the treatment of GPA with cranial neuropathies.
Conclusions:
GPA with cranial neuropathies might be useful with RTX as induction therapy.
Respiratory syncytial virus pneumonia treated with lower-dose palivizumab in a heart transplant recipient
Authors: J L Grodin, K S Wu, E E Kitchell, J Le, J D Mishkin, M H Drazner, D W Markham
Journal: Case Rep Cardiol (2012)
MeSH terms: Case Reports

Respiratory syncytial virus (RSV) is an important community-acquired pathogen that can cause significant morbidity and mortality in patients who have compromised pulmonary function, are elderly, or are immunosuppressed. This paper describes a 70-year-old man with a remote history of heart transplantation who presented with signs and symptoms of pneumonia. Chest computed tomography (CT) imaging demonstrated new patchy ground glass infiltrates throughout the upper and lower lobes of the left lung, and the RSV direct fluorescence antibody (DFA) was positive. The patient received aerosolized ribavirin, one dose of intravenous immunoglobulin, and one dose of palivizumab. After two months of followup, the patient had improved infiltrates on chest CT, improved pulmonary function testing, and no evidence of graft rejection or dysfunction. There are few data on RSV infections in heart transplant patients, but this case highlights the importance of considering this potentially serious infection and introduces a novel method of treatment.