OpenMed/multicare-articles huggingface dataset:
Laparoscopic-Assisted Hysteroscopic Surgery for Endometrial Tumors Arising after Pelvic Radiation Therapy
Authors: Yuji Tanaka, Kimiko Hirata, Mariko Takahashi, Masashi Kobayashi
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Uterine tumors detected after pelvic radiation therapy are rare. We report a case in which an endometrial tumor developed after pelvic radiation therapy for cervical cancer. The patient was a 70-year-old female with a history of pelvic radiotherapy for locally advanced cervical cancer. After 12 months of radiation therapy, magnetic resonance imaging showed tumors in the uterine cavity, and positron emission tomography-computed tomography showed no tumors, except uterine tumors. Since radiation therapy-induced cervical stenosis was conducted, endometrial examination could not be performed without anesthesia. As these tumors were detected after radiation therapy for uterine cancer, malignancy was considered. A laparoscopic-assisted transcervical hysteroscopic resection was performed for the diagnosis and treatment of uterine tumors after radiation therapy. This operative method was useful and enabled us to perform complete resection, observe the abdominal cavity, prepare for the possibility of secondary hysterectomy, and improve safety.
Tuberculous abdominal cocoon mimicking peritoneal carcinomatosis
Authors: Zhi-Xin Meng, Yan Liu, Rui Wu, Kai Shi, Tao Li
Journal: Antimicrob Resist Infect Control (2019)
Keywords: abdominal cocoon, intestinal obstruction, tuberculosis
MeSH terms: Ascites / microbiology, Intestinal Obstruction / surgery, Intraabdominal Infections / microbiology, Tuberculosis / diagnosis, Case Reports, Research Support, Non-U.S. Gov't, Antitubercular Agents / therapeutic use, Ascites / drug therapy, Diagnosis, Differential, Humans, Intestinal Obstruction / etiology, Intestine, Small / surgery, Intraabdominal Infections / drug therapy, Laparoscopy, Male, Middle Aged, Peritoneal Neoplasms / diagnosis, Treatment Outcome, Antitubercular Agents

Background:
Tuberculous abdominal cocoon is an uncommon manifestation of abdominal tuberculosis. As a rare clinical entity, it is often encountered unexpectedly in patients with small intestinal obstruction. Here we presented a rare case of tuberculous abdominal cocoon which was suspected to be peritoneal carcinomatosis and was finally diagnosed by laparoscopy.
Case presentation:
A 47-year-old man developed small intestinal obstruction and massive ascites that did not resolve with conservative management. Surgical exploration revealed a fibrous sheath covering the small-bowel, and pathologic assessment of biopsies confirmed intra-abdominal tuberculous infection. After antituberculosis therapy, the ascites has greatly diminished and the patient was functioning normally.
Conclusion:
Preoperative diagnosis of tuberculous abdominal cocoon is a true challenge. Early diagnostic peritoneal biopsy should be recommended and surgery is usually unnecessary if definitive diagnosis can be made.
Paraurethral Leiomyoma as an Incidental Finding in Patient with Fibroid Uterus
Authors: Dmitry Fridman, Marnie Abeshouse, Alexander Sankin
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Paraurethral leiomyomas are rare benign fibromuscular tumors developing from urethra. The presenting symptoms are usually related to mass effect. We present a case of an incidental diagnosis of a paraurethral leiomyoma in a patient with a fibroid uterus. Case was managed by hysterectomy concurrent with periurethral leiomyoma excision. Patient had uncomplicated clinical course. Due to close localization of paraurethral leiomyoma to urethra and bladder care must be taken to minimize the injury during resection.
Solitary Skull Metastasis as the First Presentation of a Metachronous Primary Lung Cancer in a Survivor from Pancreatic Cancer
Authors: Ali Altalhy, Yazid Maghrabi, Zuhoor Almansouri, Saleh S Baeesa
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

Skull metastasis from lung cancer is relatively common, yet the first presentation for this malignant disease is a rare occurrence. We herein report a case of a 54-year-old female, who had a good outcome following Whipple procedure for periampullary adenocarcinoma five years before her current presentation. During a routine follow-up, she was found to have a slowly progressive painless right parietal swelling. The systemic screening workup revealed no abdominal disease, but a solitary pulmonary nodule was identified. The presence of these two lesions raised the diagnosis of metastases from a previously treated pancreatic adenocarcinoma. The patient underwent complete excision of the skull lesion and subsequent lung biopsy, both of which proved on histopathological examination to be consistent with a primary lung cancer. This case emphasizes the importance of imaging and histopathological correlation in the diagnosis of solitary skull metastases and their effect on the subsequent management.
Case Report: Kaposiform Hemangioendothelioma With Spinal Involvement
Authors: Tong Qiu, Kaiying Yang, Shiyi Dai, Siyuan Chen, Yi Ji
Journal: Front Pediatr (2021)
Keywords: kasabach-merritt phenomenon, clinical manifestations, decreased range of motion, kaposiform hemangioendothelioma, scoliosis, spinal involvement
MeSH terms: Case Reports

Introduction: Kaposiform hemangioendothelioma (KHE) is a rare, locally invasive vascular tumor that mostly appears in infants and adolescents. KHE with spinal involvement is extremely rare. The aim of this study was to review the imaging features, clinical manifestations and treatment of KHE patients with spinal involvement. Materials and Methods: We reviewed patients with KHE who were admitted to Pediatric Surgery of West China Hospital of Sichuan University from April 2014 to August 2020, and the cases were evaluated. Results: Seven patients with spinal involvement were enrolled in the study, including four (57.1%) males and three (42.9%) females. The age at onset ranged from 1.0 day to 4.0 years, with an average of 1.6 years. Five (71.4%) had pain due to bone destruction, three patients (42.9%) had decreased range of motion (ROM), four (57.1%) patients had scoliosis, two (28.6%) patients developed claudication, and three patients (42.9%) presented with a soft tissue mass in the neck of the back. Five patients (71.4%) had the Kasabach-Merritt phenomenon (KMP), with a minimum platelet value of 8 × 109/L. All patients were treated with sirolimus, and showed regression of the lesion and/or normalization of the hematologic parameters. Conclusion: KHE with spinal involvement is difficult to diagnose due to its rarity and variable symptoms, which need to be recognized to start early treatment. The management of KHE with spinal involvement should be performed by a multidisciplinary team. Sirolimus can improve outcomes in patients with KHE with spinal involvement.
Hemophagocytic Lymphohistiocytosis: an Unusual Complication of Orientia tsutsugamushi Disease (Scrub Typhus)
Authors: Aneesh Basheer, Somanath Padhi, Vinoth Boopathy, Saumyaranjan Mallick, Shashikala Nair, Renu G'Boy Varghese, Reba Kanungo
Journal: Mediterr J Hematol Infect Dis (2015)
MeSH terms: Case Reports

Background:
Hemophagocytic lymphohistiocytosis (HLH) is an uncommon, potentially fatal, hyperinflammatory syndrome that may rarely complicate the clinical course of Orientia tsutsugamushi disease (scrub typhus).
Methods:
Here we describe the clinicopathological features, laboratory parameters, management, and outcome of three adult patients (1 female, 2 males) with scrub typhus associated HLH from a tertiary center. A brief and concise review of international literature on the topic was also added.
Results:
All three patients satisfied the HLH-2004 diagnostic criteria; one had multi-organ dysfunction with very high ferritin level (>30,000 ng/ml), and all had a dramatic recovery following doxycyclin therapy. Literature review from January 1990 to March 2014 revealed that scrub typhus associated HLH were reported in 21 patients, mostly from the scrub endemic countries of the world. These included 11 females and 10 males with a mean age of 35 years (range; 8 months to 81 years). Fifteen of 17 patients (where data were available) had a favorable outcome following early serological diagnosis and initiation of definitive antibiotic therapy with (N=6) or without (N=9) immunosuppressive/immunomodulator therapy. Mutation analysis for primary HLH was performed in one patient only, and HLH-2004 protocol was used in two patients.
Conclusion:
We suggest that HLH should be considered in severe cases of scrub typhus especially if associated with cytopenia (s), liver dysfunction, and coagulation abnormalities. Further studies are required to understand whether an immunosuppressive and/or immunomodulator therapy could be beneficial in those patients who remain unresponsive to definitive antibiotic therapy.
A case report of the sustained and rapid response of bevacizumab in a TP53-positive breast cancer and liver metastatic patient through personalized medicine
Authors: Mohammad Reza Eskandarion, Zahra Tizmaghz, Bahram Andalib, Nasser Parsa, Seyed Amir Hossein Emami, Reza Shahsiah, Mohammad Ali Oghabian, Reza Shirkoohi
Journal: Front Oncol (2022)
Keywords: ngs, breast cancer, liver metastasis, personalized medicine, target therapy, tumor markers
MeSH terms: Case Reports

HER2-positive metastatic breast cancer is much less frequent than other subgroups of breast cancer. Treatment options for this cancer are mostly limited to systemic chemotherapy, which leads to moderate improvements. Targeted therapy against malignant breast cancer requires the identification of reliable biomarkers for personalized medicine to obtain the maximum benefit of this therapy. Any mutations in the TP53 signaling pathway can be considered as a significant causative factor of breast cancer, for which the identification of target genes plays an important role in selecting the appropriate treatment. The use of personalized gene expression profiling could be valuable to find the direct target of the treatment in this case. The present study assessed the genetic profile of an HER2-positive metastatic breast cancer patient (with a liver metastasis) and figured out a complete and sustained response to bevacizumab. According to the results of next-generation sequencing (NGS) analysis, the patient's genetic profile showed an increased expression of p4EBP1 and PTEN and the activation of the mTOR signaling pathway with a mutation in the TP53 gene. Based on the common treatment of similar profiling, we administrated bevacizumab/Taxol/Gemzar chemotherapy up to six courses. Accordingly, as the response to treatment was revealed by reducing the volume of the liver metastasis from 4 to 1.4 cm, metastasectomy was performed as a complementary treatment. Hence, personalized gene expression profiling not only is useful for targeted therapy but also could be recommended to avoid prescription of non-responsive drugs.
Hyperammonemia: What Urea-lly Need to Know: Case Report of Severe Noncirrhotic Hyperammonemic Encephalopathy and Review of the Literature
Authors: Ruby Upadhyay, Thomas P Bleck, Katharina M Busl
Journal: Case Rep Med (2016)

Purpose. A 66-year-old man who presented with coma was found to have isolated severe hyperammonemia and diagnosed with a late-onset urea-cycle disorder. He was treated successfully and had full recovery. Methods. We report a novel case of noncirrhotic hyperammonemia and review the literature on this topic. Selected literature for review included English-language articles concerning hyperammonemia using the search terms "hyperammonemic encephalopathy", "non-cirrhotic encephalopathy", "hepatic encephalopathy", "urea-cycle disorders", "ornithine transcarbamylase (OTC) deficiency", and "fulminant hepatic failure". Results. A unique case of isolated hyperammonemia diagnosed as late-onset OTC deficiency is presented. Existing evidence about hyperammonemia is organized to address pathophysiology, clinical presentation, diagnosis, and treatment. The case report is discussed in context of the reviewed literature. Conclusion. Late-onset OTC deficiency presenting with severe hyperammonemic encephalopathy and extensive imaging correlate can be fully reversible if recognized promptly and treated aggressively.
Effectiveness of Trastuzumab Combined With Capecitabine Treatment in a Patient With Hilar Cholangiocarcinoma Complicated by Liver Metastases With an ERBB2-Activating Mutation: A Case Report
Authors: Daobing Zeng, Xiaofei Zhao, Liang Di, Luyan Lou, Yanfang Song, Yanrui Zhang, Huanhuan Liu, Guangming Li
Journal: Front Oncol (2022)
Keywords: erbb2 mutation, case report, cholangiocarcinoma, trastuzumab, treatment
MeSH terms: Case Reports

The identification of ERBB2 (HER2) alteration in some solid tumors has become critically important due to the actionable events predictive of response to anti-HER2 therapy. However, the efficacy of ERBB2 mutated hilar cholangiocarcinoma (hCCA) against ERBB2 is rarely reported. Here we report a 76-year-old female diagnosed with hCCA complicated by liver metastases after radical resection. The next-generation sequencing assay showed that the tumor had an ERBB2 mutation. Then, the patient was treated with trastuzumab plus capecitabine. After 2 months of treatment, she had a partial response. Until now, the patient is still alive. This study has shown the potential of trastuzumab combined with capecitabine as an effective treatment for hilar cholangiocarcinoma complicated by liver metastases harboring ERBB2 alterations.
Case report: An unusual presentation of puerperal sepsis
Authors: Doron Kabiri, Diana Prus, Roie Alter, Gali Gordon, Shay Porat, Yossef Ezra
Journal: Front Med (Lausanne) (2022)
Keywords: group a streptococcus, infection in pregnancy, maternal mortality, maternal sepsis, puerperal sepsis
MeSH terms: Case Reports

Group A Streptococcus (GAS; Streptococcus pyogenes) is a facultative gram-positive coccus, uncommonly colonizing parturient genitalia, where its presence can potentially lead to a life-threatening invasive infection after delivery. GAS infection typically occurs within the first 4 days post-partum and is characterized by high fever, chills, flashing, abdominal pain, and uterine tenderness. Nonetheless, patients with GAS puerperal sepsis may have an unusual presentation, when fever is absent, and the symptoms and signs can be mild, non-specific, and not indicative of the severity of infection. This unusual presentation may lead to a delayed diagnosis and increase the risk for severe puerperal sepsis. Therefore, in these cases, a high index of suspicion and prompt early antibiotic and surgical treatment is crucial to saving the parturient's life.
Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5
Authors: Şenay Savaş Erdeve, Merih Berberoğlu, Zeynep Şıklar, Olcay Evliyaoğlu, Olaf Hiort, Gönül Öcal
Journal: J Clin Res Pediatr Endocrinol (2010)
Keywords: albright’s hereditary osteodystrophy, pseudohypoparathyroidism type ia, mutation
MeSH terms: Exons / genetics, GTP-Binding Protein alpha Subunits, Gs / genetics, Mutation, Missense, Pseudohypoparathyroidism / genetics, Case Reports, Calcitriol / therapeutic use, Child, Chromogranins, Female, Follow-Up Studies, Humans, Male, Pedigree, Pseudohypoparathyroidism / classification, Pseudohypoparathyroidism / drug therapy, Time Factors, Vitamins / therapeutic use, Chromogranins, Vitamins, GNAS protein, human, GTP-Binding Protein alpha Subunits, Gs, Calcitriol

Pseudohypoparathyroidism (PHP) refers to end-organ resistance that primarily impairs the renal actions of parathyroid hormone (PTH). The patients with PHP type Ia (PHP-Ia), one of the 4 types of PHP, show resistance to other peptide hormones as well as clinical features of Albright hereditary osteodystrophy (AHO), a constellation of short stature, obesity, brachydactyly, ectopic ossifications, and/or mental retardation. Here we report clinical follow-up for a long-term period in a PHP-Ia case who had a missense mutation leading to the substitution of proline by serine (Prol115Ser) in exon 5 which has been reported previously in only two patients. An 11-year-old boy applied for hand spasm to our hospital. On physical examination, he had short stature, round-shaped face and brachydactly. Laboratory evaluation revealed PTH and TSH resistance. Molecular genetic analysis of the GNAS gene revealed a P115S substitution. The patient was followed up for 13 years. Normocalcaemia was achieved with reduced doses of calcitriol (0.25 μg/day) and calcium supplements (40 mg/kg/day). Daily requirement for levothyroxine supplementation was still high (2.3 μg/kg) to achieve euthyroidism. His pubertal development was Tanner stage V and he has no gonadotropin resistance. To our knowledge, this is the first report concerning long-term follow-up of this rare mutation. We believe that despite the genetic heterogeneity of AHO, phenotype/genotype correlations of this kind of rare mutations may help to understand progress of the disease.
Case Report: Interferon-Alpha-Induced Neuromyelitis Optica Spectrum Disorder
Authors: Jie Rao, Na Xu, Jing Sun, Yan Li, Fangwang Fu
Journal: Front Neurol (2022)
Keywords: aqp4 antibody, nmosd, autoimmune disease, case report, drug-induced disease, interferon
MeSH terms: Case Reports

Background and objectives:
To describe a new case of neuromyelitis optica spectrum disorder (NMOSD) induced by the administration of interferon-alpha (IFNα) and to raise awareness of this rare drug-induced disease of IFNα treatment.
Methods:
A single case study and comprehensive literature review of eight cases.
Results:
A 24-year-old man was diagnosed with cerebral venous thrombosis and essential thrombocythemia. He had been undergoing IFNα treatment (IFNα-2b, 3 million IU per day) without any side effects for 18 months, at which point the patient developed persistent hiccups, nausea, urinary retention, and numbness. Spinal magnetic resonance imaging revealed a longitudinal abnormality extending from the medulla to the entire spinal cord. The patient was positive for anti-aquaporin-4 antibody (AQP4-IgG) in both the serum and cerebrospinal fluid (CSF), which confirmed the diagnosis of NMOSD. Thus, recombinant IFNα-2b was suspended immediately. Because his condition did not improve after 6-day treatment of methylprednisolone pulse therapy (1,000 mg for 3 days, then 500 mg for 3 days), intravenous immunoglobulin (0.4 g/kg/day for 5 days) was administered. The patient gradually improved. Low-dose prednisolone and mycophenolate mofetil were subsequently administered as a long-term treatment. The patient was discharged with subtle limb numbness and their expanded disability status score (EDSS) was 1. At the 1-year follow-up, the patient had not relapsed and tested negative for AQP4-IgG. We further identified the eight patients with IFNα-induced NMOSD. The median onset age was 59 years, and the median time of IFNα exposure was 18 months. Optic neuritis was the most common initial symptom (five, 55.6%), followed by myelitis in three patients and area postrema syndrome in one patient. More than half (five, 55.6%) of the patients were monophasic. After IFNα discontinuation and immunotherapy, most (seven, 77.8%) patients remained relapse-free. However, only one patient was free of sequelae.
Conclusion:
This study highlights the potential pathogenic risk of NMOSD of IFNα treatment. Given the high disability rates of this rare drug-induced disease, it is crucial to monitor the early manifestations of NMOSD during IFNα treatment.
Two Cases of Acute Cholecystitis and Symptomatic Choledocholithiasis in Two Women Less than 40-Years-of-Age with Hormonal Intrauterine Devices
Authors: Helen M Shields, Hasrat Sidhu
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Levonorgestrel uterine implants are accepted as a safe and efficacious method of contraception. One of the two major health side effects in a large controlled study of subcutaneous hormonal implants with levonorgestrel was a significant increase in gallbladder disease. Gallbladder hypomotility is recognized as a side effect of the levonorgestrel (progesterone). We recently saw on a Gastroenterology Consult Service, two women under 40-years-of-age who had been transferred from outside hospitals with acute cholecystitis with symptomatic choledocholithiasis. Both required Endoscopic Retrograde Cholangiopancreatography and sphincterotomies in addition to laparoscopic cholecystectomies. Both had hormonal (levonorgestrel-releasing) intrauterine devices in place for contraception. Although one patient had a family history of gallstones, the other did not. Both were nonobese, young women patients. We were struck by the coincidence of seeing two such patients. Few articles in the medical literature detail the clinical risks of gallstone disease in patients with hormonal (levonorgestrel-releasing) intrauterine devices. Our experiences with these two patients led us to believe that patients with risk factors for gallstone disease, such as a positive family history, ethnic predisposition, or obesity, should be warned of possible problems, not only with gallbladder disease, but also of common duct stones.
Complex upper limb reconstruction using dorsoepigastric flap. Case report of a convenient resource
Authors: Gustavo Jimenez Muñoz-Ledo, Marcos Melgosa-Juárez, Julio Palacios-Júárez, Jesus Morales-Maza, Jorge Humberto Rodríguez-Quintero
Journal: Int J Surg Case Rep (2019)
Keywords: arm reconstruction, dorsoepigastric flap, mangled extremity, reconstructive surgery

Introduction:
Dorsoepigastric flap (DF), first described by. Haddad and Jimenez, is a variant of the classic lattisimus dorsi musculocutaneous flap that only utilizes a minimum quantity of muscle tissue, through which the vascular pedicle passes by. It has been used primarily as an acceptable alternative in mammary reconstruction when the use of thoraco abdominal muscles is not viable, and offers several advantages such as adequate flap volume with generous cutaneous island dimensions and functional preservation of the latissimus dorsi.
Presentation of a case:
We report the case of a 12 year old male, who suffered a left upper limb injury secondary to high power firearm shot. He presented extensive damage to the skin, soft tissues and bone structures and was treated with primary reconstruction using DF and peroneal grafts. Three years later, a shoulder prosthesis was placed to improve limb function with unobjectionable results.
Conclusion:
DF is a useful resource that has been merely used in the context of complex upper limb reconstruction, and must be considered essential in the repertoire of the reconstructive surgeon when facing traumatic defects of the upper extremity.