OpenMed/multicare-articles huggingface dataset:
Tumor Necrosis Factor Alpha Inhibition for Inflammatory Bowel Disease after Liver Transplant for Primary Sclerosing Cholangitis
Authors: Ravish Parekh, Ahmed Abdulhamid, Sheri Trudeau, Nirmal Kaur
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Background:
Outcome data regarding the use of tumor necrosis factor alpha inhibitors (anti-TNFα) in patients with inflammatory bowel disease (IBD) after liver transplant (LT) for primary sclerosing cholangitis (PSC) are scant.
Methods:
We performed a retrospective chart review to investigate outcomes among a series of post-liver-transplant PSC/IBD patients receiving anti-TNFα therapy at Henry Ford Health System ((HFHS), Detroit, MI).
Results:
A total of five patients were treated with anti-TNFα agents for IBD after LT for PSC from 1993 through 2015. Two patients were treated with adalimumab, and three were treated with infliximab. Three patients were hospitalized with severe posttransplant infections. Two patients developed posttransplant lymphoproliferative disease (PTLD); one of these patients died due to complications of PTLD.
Conclusion:
Anti-TNFα treatment following LT worsened the disease course in our patients with concurrent PSC/IBD and led to serious complications and surgical intervention. Larger studies are needed to evaluate the side effects and outcomes of the use of such agents in this patient population. Until then, clinicians should have a high threshold to use anti-TNFα therapy in this setting.
Tacrolimus Toxicity due to Biliary Obstruction in a Combined Kidney and Liver Transplant Recipient
Authors: Samuel Chan, Michael T Burke, David W Johnson, Ross S Francis, David W Mudge
Journal: Case Rep Transplant (2017)
MeSH terms: Case Reports

The immunosuppressant tacrolimus has a narrow therapeutic window, necessitating therapeutic drug monitoring to maintain efficacy and minimise toxicity. There are very few reports examining the impact of impaired biliary excretion on tacrolimus blood levels or toxicity. We report the case of a 26-year-old combined liver and kidney transplant recipient, who developed acute biliary obstruction leading to tacrolimus toxicity with very high blood tacrolimus levels. Despite a careful evaluation, no alternative cause was found for her acute kidney injury, and her kidney function returned to previous baseline within several days following treatment of the biliary obstruction and temporary withdrawal of tacrolimus.
A Novel Homozygous Variant in the Fork-Head-Associated Domain of Polynucleotide Kinase Phosphatase in a Patient Affected by Late-Onset Ataxia With Oculomotor Apraxia Type 4
Authors: Rosa Campopiano, Rosangela Ferese, Fabio Buttari, Cinzia Femiano, Diego Centonze, Francesco Fornai, Francesca Biagioni, Maria Antonietta Chiaravalloti, Mauro Magnani, Emiliano Giardina, Anna Ruzzo, Stefano Gambardella
Journal: Front Neurol (2020)
Keywords: pnkp gene, ataxia with oculomotor apraxia, clinical exome, late onset, neurogenetics
MeSH terms: Case Reports

Ataxia with oculomotor apraxia (AOA) is a clinical syndrome featuring a group of genetic diseases including at least four separate autosomal-recessive cerebellar ataxias. All these disorders are due to altered genes involved in DNA repair. AOA type 4 (AOA4) is caused by mutations in DNA repair factor polynucleotide kinase phosphatase (PNKP), which encodes for a DNA processing enzyme also involved in other syndromes featured by microcephaly or neurodegeneration. To date, only a few AOA4 patients have been reported worldwide. All these patients are homozygous or compound heterozygous carriers for mutations in the kinase domain of PNKP. In this report, we describe a 56 years old patient affected by AOA4 characterized by ataxia, polyneuropathy, oculomotor apraxia, and cognitive impairment with the absence of dystonia. The disease is characterized by a very late onset (50 years) when compared with other AOA4 patients described so far (median age of onset at 4 years). In this proband, Clinical Exome Analysis through Next Generation Sequencing (NGS) consisting of 4,800 genes, identified the PNKP homozygous mutation p.Gln50Glu. This variant, classified as a likely pathogenic variant according to American College of Medical Genetics (ACMG) guidelines, does not involve the kinase domain but falls in the fork-head-associated (FHA) domain. So far, mutations in such a domain were reported to associate only with a pure seizure syndrome without the classic AOA4 features. Therefore, this is the first report of patients carrying a mutation of the FHA domain within the PNKP gene which expresses the clinical phenotype known as the AOA4 syndrome and the lack of any seizure activity. Further studies are required to investigate specifically the significance of various mutations within the FHA domain, and it would be worth to correlate these variants with the age of onset of the AOA4 syndrome.
Embryonal sarcoma of the liver in an adult patient
Authors: Nicole Lightfoot, Mehrdad Nikfarjam
Journal: Case Rep Surg (2012)
MeSH terms: Case Reports

Undifferentiated embryonal sarcomas (UESs) are uncommon tumours that are seen predominantly in late childhood. Cases in adults are rare and generally present once a large mass develops and may be mistaken for other tumours. A case of an UES of the liver with an isolated peritoneal metastasis is described. The patient presented with a palpable mass with imaging findings suggestive of a cystic tumour. She had complete surgical resection of the liver mass and isolated peritoneal metastasis. She was tumour-free on imaging at 6 months without adjuvant chemotherapy. An UES should be considered in the differential of large cystic hepatic lesions, with aggressive surgical resection considered when possible.
Deep Brain Stimulation for the Treatment of Hemichorea: Case Series and Literature Review
Authors: Zihan Masood, Joseph S Domino, Antonia Gragg, Kim Burchiel, Michael Kinsman, Vibhash D Sharma
Journal: Tremor Other Hyperkinet Mov (N Y) (2023)
Keywords: hemiballismus, deep brain stimulation, hyperkinetic movement disorder
MeSH terms: Chorea / diagnostic imaging, Chorea / therapy, Deep Brain Stimulation, Dyskinesias / etiology, Dyskinesias / therapy, Movement Disorders / therapy, Review, Case Reports, Globus Pallidus / diagnostic imaging, Globus Pallidus / physiology, Humans

Background:
Hemichorea (HC) and its severe form hemiballismus (HB) are rare movement disorders which can be medically refractory to treatments and may need surgical intervention.
Case report:
We report 3 patients with HC-HB who had meaningful clinical improvement with unilateral deep brain stimulation (DBS) of the globus pallidus interna (GPi). We identified 8 prior cases of HC-HB treated with GPi-DBS, and a majority of these patients experienced significant improvement in their symptoms.
Discussion:
GPi-DBS can be considered in medically refractory HC-HB in carefully selected patients. However, data is limited to small case series and further studies are needed.
Ultrasound-Guided Nerve Block with Botulinum Toxin Type A for Intractable Neuropathic Pain
Authors: Young Eun Moon, Jung Hyun Choi, Hue Jung Park, Ji Hye Park, Ji Hyun Kim
Journal: Toxins (Basel) (2016)
Keywords: botulinum toxin type a, diabetic polyneuropathy, nerve block, postherpetic neuralgia
MeSH terms: Analgesics / administration & dosage, Botulinum Toxins, Type A / administration & dosage, Neuralgia / drug therapy, Ultrasonic Waves, Case Reports, Aged, Analgesics / therapeutic use, Botulinum Toxins, Type A / therapeutic use, Female, Humans, Male, Middle Aged, Nerve Block, Analgesics, Botulinum Toxins, Type A

Neuropathic pain includes postherpetic neuralgia (PHN), painful diabetic neuropathy (PDN), and trigeminal neuralgia, and so on. Although various drugs have been tried to treat neuropathic pain, the effectiveness of the drugs sometimes may be limited for chronic intractable neuropathic pain, especially when they cannot be used at an adequate dose, due to undesirable severe side effects and the underlying disease itself. Botulinum toxin type A (BoNT-A) has been known for its analgesic effect in various pain conditions. Nevertheless, there are no data of nerve block in PHN and PDN. Here, we report two patients successfully treated with ultrasound-guided peripheral nerve block using BoNT-A for intractable PHN and PDN. One patient had PHN on the left upper extremity and the other patient had PDN on a lower extremity. Due to side effects of drugs, escalation of the drug dose could not be made. We injected 50 Botox units (BOTOX(®), Allergan Inc., Irvine, CA, USA) into brachial plexus and lumbar plexus, respectively, under ultrasound. Their pain was significantly decreased for about 4-5 months. Ultrasound-guided nerve block with BoNT-A may be an effective analgesic modality in a chronic intractable neuropathic pain especially when conventional treatment failed to achieve adequate pain relief.
Avoiding misdiagnosis of duodenal papilla adenocarcinoma in a situs inversus totalis patient via laparoscopic pancreaticoduodenectomy: A rare case report
Authors: Hao Liang, Ya-Kun Wu, Wu Pang, Ming-Liang Chen, Yu Zhu
Journal: Front Surg (2023)
Keywords: case report, duodenal papilla adenocarcinoma, laparoscopic pancreaticoduodenectomy, misdiagnosis, situs inversus totalis
MeSH terms: Case Reports

Situs inversus totalis is a rare congenital anatomical anomaly that causes some difficult problems for surgeons when performing an operation. However, without histopathology specimens from surgery, a misdiagnosis of cancer may be unavoidable, in addition to affecting the improvement of prognosis. This study reports a rare patient with situs inversus totalis who presented with the main complaints of pruritus and vague abdominal pain. She was first misdiagnosed with cholangiocarcinoma and was finally diagnosed with duodenal papilla adenocarcinoma via laparoscopic pancreaticoduodenectomy. Situs inversus totalis was not a contraindication for surgery. Skilled surgeons and complete preparation during the perioperative period are two important keys to successful surgeries. Performing laparoscopic pancreaticoduodenectomy for patients with situs inversus totalis to avoid misdiagnosis of cancer and tailor appropriate therapy plans is cost-effective.
The Efficacy and Safety of Ultrasound-Guided, Bi-Level, Erector Spinae Plane Block With Different Doses of Dexmedetomidine for Patients Undergoing Video-Assisted Thoracic Surgery: A Randomized Controlled Trial
Authors: Xiujuan Gao, Tonghang Zhao, Guangjun Xu, Chunguang Ren, Guoying Liu, Ke Du
Journal: Front Med (Lausanne) (2021)
Keywords: dexmedetomidine, erector spinae plane block, ropivacaine, ultrasound, video-assisted thoracic surgery
MeSH terms: Case Reports

Background: The anesthetic characteristics of ultrasound-guided bi-level erector spinae plane block (ESPB) plus dexmedetomidine (Dex) remain unclear. We compared the efficacy and safety of ultrasound-guided bi-level ESPB plus different doses of Dex in patients undergoing video-assisted thoracic surgery (VATS). Methods: One-hundred eight patients undergoing VATS were randomized into three groups: R group (n = 38, 15 ml of 0.375% ropivacaine with 0.1 mg/kg dexamethasone), RD1 group (n = 38, 15 ml of 0.375% ropivacaine plus 0.5 μg/kg DEX with 0.1 mg/kg dexamethasone) and RD2 group (n = 38, 15 ml of 0.375% ropivacaine plus 1.0 μg/kg DEX with 0.1 mg/kg dexamethasone). The primary outcome was the pain 12 h after surgery. Secondary outcomes included the Prince Henry Hospital Pain Score; hemodynamics; consumption of sufentanil; anesthetized dermatomal distribution; recovery time; rescue analgesia; satisfaction scores of patients and surgeon; quick recovery index; adverse effects; the prevalence of chronic pain and quality of recovery. Results: The visual analog scale (VAS) and the Prince Henry pain score were significantly lower in both the RD1 and RD2 groups during the first 24 h after surgery (P < 0.05). Both VAS with coughing and the Prince Henry pain score were significantly lower in the RD2 group than in the RD1 group 8-24 h after surgery (P < 0.05). Both heart rate and mean arterial pressure were significantly different from T2 to T6 in the RD1 and RD2 groups (P < 0.05). The receipt of remifentanil, propofol, Dex, and recovery time was significantly reduced in the RD2 group (P < 0.05). The requirement for sufentanil during the 8-72 h after surgery, less rescue medication, and total press times were significantly lower in the RD2 group (P < 0.05). The time to the first dose of rescue ketorolac was significantly longer in the RD2 group (P < 0.05). Further, anal exhaust, removal of chest tubes, and ambulation were significantly shorter in the RD2 group (P < 0.05). The incidence of tachycardia, post-operative nausea and vomiting, and chronic pain was significantly reduced in the RD2 group, while the QoR-40 score was significantly higher in the RD2 group (P < 0.05). Conclusions: Pre-operative bi-level, single-injection ESPB plus 1 μg/kg DEX provided superior pain relief and long-term post-operative recovery for patients undergoing VATS. Clinical Trial Registration: http://www.chictr.org.cn/searchproj.aspx.
A Rare Case of Extramedullary Relapse of Multiple Myeloma Causing Bowel Obstruction
Authors: Prarthna V Bhardwaj, Shrinkhala Khanna, Majd D Jawad, Syed S Ali
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Extramedullary myeloma, defined by presence of plasma cells outside the bone marrow, is a rare entity accounting for about 3-9% of all cases. It usually is aggressive with a median survival of <6 months. It is also associated with adverse prognostic factors including 17p deletions and high-risk gene profiles. While common extramedullary sites include bones, there have been several case reports of hematogenous extramedullary myeloma to the liver, lungs, pancreas, breast, skin, and soft tissues. Extramedullary myeloma to the mesentery is a rare entity with only a handful of cases reported. We present a case of 69-year-old man presenting with relapse of multiple myeloma to the mesentery, resulting in bowel obstruction to highlight the various presentations of myeloma.
Renal Involvement in IPEX Syndrome With a Novel Mutation of FOXP3: A Case Report
Authors: Ruijuan Ke, Ying Zhu, Fang Deng, Daliang Xu
Journal: Front Genet (2022)
Keywords: foxp3, ipex syndrome, diagnosis, treatment, whole-exon sequencing
MeSH terms: Case Reports

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare genetic disease characterized by multiple immune disorders. Different mutations of the FOXP3 gene may lead to distinct clinical manifestations. Here, we present a rare case of IPEX syndrome caused by a novel variant of FOXP3. Clinical manifestations include autoimmune hemolysis, bronchiectasis, diarrhea, and proteinuria but without diabetes or other endocrine disorders. The diagnosis of IPEX syndrome was confirmed by whole-exon sequencing. Supportive treatment did not ameliorate the patient's symptoms, while immunosuppressive therapy showed a promising efficacy. The patient we reported will improve the understanding of renal manifestations in IPEX syndrome.
Bone loss in Gorham's disease: A case study
Authors: Bin Chen, Xiaofeng Lv, Jinxiao Wu, Xingguang Zhang, Xiumin Jiao, Jing Zhao, Qianpeng Cheng, Can Cui
Journal: Exp Ther Med (2013)
Keywords: gorham’s disease, maxillary bone, prognosis, radiotherapy, ribs

In this study, a rare disease with characteristics of spontaneous osteolysis of the bone is reported. The patient was an eight-year-old male, who was admitted with shortness of breath. The absence of the right clavicle was identified by radiography. However, the change to the right clavicle was not malignant, as indicated by bone scanography. The biopsy of the right cervical rib revealed a number of vascular fibrous tissues and vessels distending and shunting together; however, no cell proliferation was observed. In addition, no acid-fast bacillia or malignant cells were detected in the sample of pleural effusion from the patient. Low hemoglobin (93 g/l) and a slight elevation of alkaline phosphatase levels (133 U/l) were observed; however, the other laboratory examination results were normal. The follow-up investigation and radiotherapy results indicated that the osteolysis of the skull and the other portion of bone had not worsened. Although it has been reported that >15% of patients succumb to this disease, the patient reported in the current study was in a relatively stable condition.
Successful treatment for severe pancreatitis with colonic perforation using video-assisted retroperitoneal debridement: A case report
Authors: Yuto Hozaka, Hiroshi Kurahara, Yuko Mataki, Yota Kawasaki, Satoshi Iino, Masahiko Sakoda, Shinichiro Mori, Kosei Maemura, Hiroyuki Shinchi, Shoji Natsugoe
Journal: Int J Surg Case Rep (2018)
Keywords: abscess, case report, drainage, embolization, step-up approach

Introduction:
Colorectal complications including penetration and perforation in acute pancreatitis often become severe and fatal. Effective drainage is pivotal for successful treatment. We present a case of large retroperitoneal abscess with colonic necrotizing perforation due to severe acute pancreatitis treated with video-assisted retroperitoneal debridement (VARD) in a step-up approach.
Presentation of case:
A 31-year-old man was admitted to a general hospital with a diagnosis of severe acute pancreatitis. Ten days after onset, he was referred to our hospital for more intensive treatment. On day 16, he experienced melena and shock, and embolization of the three straight arteries of the descending colon was performed. On day 30, percutaneous drainage was performed for large retroperitoneal abscess. On day 36, ileostomy was performed because the drained pus from the retroperitoneal abscess became feces-like. On day 58, VARD was performed to treat the refractory retroperitoneal abscesses causing high systemic inflammation due to insufficient drainage. On day 85, fluoroscopic examination showed disappearance of the abscess cavity. He was transferred to the previous hospital on day 89.
Discussion:
Colonic perforation due to severe acute pancreatitis often causes sepsis and fatal condition of patients, and drainage of the retroperitoneal abscesses via laparotomy is thought to be highly invasive and risky. VARD enables radical necrosectomy and drainage less invasively.
Conclusions:
VARD enabled less invasive treatment for patients with large retroperitoneal abscess due to colonic necrotizing perforation in severe pancreatitis.
Intra-articular Fracture of the Distal part of the Triquetrum within the Pisotriquetral Joint: Case Report and Review of Literature
Authors: V Athanasiou, A Panagopoulos, I D Iliopoulos, I Vrahnis, G Diamantakis, P Kraniotis, M Tyllianakis
Journal: Open Orthop J (2018)
Keywords: dorsal carpal ligament tears, fcu subluxation, intra-articular fracture, pisotriquetral joint, triquetrum fracture, ppisiform subluxation

Background:
Intra-articular fractures of the distal part of the triquetrum within the pisotriquetral joint are uncommon, and can be associated with tears of the dorsal carpal ligaments, pisiform subluxation and/or FCU dislocation. Their diagnosis is difficult and requires a high clinical suspicion and a proper radiological examination including oblique wrist x-rays, computed tomography and MRI scan. These fractures can be delayed diagnosed due to late presentation thus leading to painful nonunion, persistent instability and late pisotriquetral arthritis.
Case report:
We present a case of a 40-year-old male who complained about ulnarsided wrist pain after a fall on his extended wrist during bicycling. The diagnosis of triquetrum fracture was suspected on clinical examination and confirmed using standard and oblique radiographs and CT scan evaluation. He was immobilized in a short-arm cast for 6 weeks followed by a progressive return to wrist motion and subsequent strengthening for another 5 weeks. He reported complete resolution of pain and excellent wrist motion and function one year after the injury, demonstrating a Mayo score of 100.
Conclusion:
Isolated intra-articular fractures of the triquetrum within the pisotriquetral joint are rare injuries and may constitute a subcategory of body fractures other than the dorsal cortical (chip), main body and volar lip avulsion fractures. Early clinical suspicion and proper imagine can lead to a successful outcome.
Seizure-Induced Hemoptysis in a Pediatric Patient
Authors: Ritika Nangia, Margaret Kahwaty, Ashutosh Sachdeva, Nidhi Kotwal
Journal: Case Rep Pediatr (2022)
MeSH terms: Case Reports

Hemoptysis can complicate seizures, albeit rarely. This unfamiliar presentation, reported infrequently in adults, can also affect children. This remains a rare clinical entity in pediatrics and we report one such case and its association with sterol carrier protein (SCP) gene mutation. We present a case of a 16-year-old male with recurrent episodes of hemoptysis following seizures. The diagnostic workup for etiology of the hemoptysis was unrevealing and he was ultimately treated for neurogenic pulmonary edema as a diagnosis of exclusion. He achieved complete resolution with supportive care and diuretics. Our case report describes the clinical and radiological presentation and overall management of post-ictal pulmonary hemorrhage and edema in a pediatric patient. In addition, it reports a new finding of possible association with sterol carrier protein (SCP2) carrier status. It also highlights a rare but potentially life-threatening consequence of inadequate seizure control in pediatric patients.
A Potential Role for Felbamate in TSC- and NF1-Related Epilepsy: A Case Report and Review of the Literature
Authors: Natanya M Mishal, Dimitrios Arkilo, Ju Tang, John R Crawford, Sonya G Wang
Journal: Case Rep Neurol Med (2015)

A 15-year-old girl with maternal inheritance of neurofibromatosis type 1 (NF1) and paternal inheritance of tuberous sclerosis complex (TSC) developed intractable epilepsy at age 5. Her seizures were refractory to adequate doses of four antiepileptic medications until felbamate was initiated at age 7. She has since remained seizure-free on felbamate monotherapy. Although felbamate has multiple mechanisms of action, it is thought to have its most potent antiepileptic effects through inhibition of the N-methyl-D-aspartate receptor (NMDAR). Previous studies have shown that the NMDAR is altered in varying epilepsy syndromes and notably in the cortical tubers found in TSC. The aim of this paper is to examine how felbamate monotherapy was able to achieve such robust antiepileptic effects in a unique patient and possibly offer a novel therapeutic approach to patients suffering from TSC- and NF-related epilepsy.
Bilateral Mesenchymal Hamartoma of the Chest Wall in a 3-Month-Old Boy: A Case Report and Review of the Literature
Authors: Mona Alfaraidi, Hossam Alaradati, Irfan Mamoun, Shamayel Mohammed
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

Mesenchymal hamartoma of the chest wall is a well-recognized but extremely rare entity. This entity is believed to be benign with no propensity for invasion or metastasis. Although the lesion manifests with alarming aggressive clinical, radiological, and histological features, it is considered benign and carries an excellent outcome. Therefore it is important to recognize this benign entity to avoid the possible misdiagnosis of malignancy and the unnecessary use of chemotherapy. We present a case of bilateral multifocal mesenchymal hamartomas of the chest wall in a male infant and a literature review of this entity. Our aim is to improve the awareness of this condition and highlight its benign behavior and satisfactory outcome following complete surgical resection.