OpenMed/multicare-articles huggingface dataset:
Case report: A novel mutation of RecQ-like helicase 5 in a Chinese family with early myocardial infarction, coronary artery disease, and stroke hemiplegia
Authors: Yi Tang, Qian Wang, Wei-Kai Zhang, Yu-Xing Liu, Zhao-Fen Zheng, Liang-Liang Fan, Lv Liu, Jin He
Journal: Front Genet (2023)
Keywords: recql5, coronary artery disease, myocardial infarction, novel mutation, stroke hemiplegia, whole-exome sequencing
MeSH terms: Case Reports

Background: Myocardial infarction (MI) is a type of severe coronary artery disease (CAD) that can lead to heart failure and sudden cardiac death. The prevalence of heart failure globally is estimated at 1%-2%, of which ∼60% of cases are the consequence of MI as the primary cause. At present, several disease-causing genes have been identified that may be responsible for MI, such as autophagy-related 16-like 1 (ATG16L1) and RecQ-like helicase 5 (RECQL5). Methods: In this study, we enrolled a Chinese family with MI, CAD, and stroke hemiplegia. Whole-exome sequencing was applied to analyze the genetic lesion of the proband. Sanger sequencing was used to validate the candidate mutation in five family members and 200 local control cohorts. Results: After data filtering, we detected a novel mutation (NM_004259: c.1247T>C/p.I416T) of RECQL5 in the proband. Sanger sequencing further validated that the novel mutation was existent in the affected individuals, including the proband's younger sister and her mother, and absent in the other healthy family members and 200 local control cohorts. Furthermore, bioinformatics analysis confirmed that the novel mutation, located in a highly evolutionarily conserved site, was predicted to be deleterious and may change the hydrophobic surface area and aliphatic index of RECQL5. Conclusion: Here, we report the second mutation (NM_004259: c.1247T>C/p.I416T) of RECQL5 underlying MI and CAD by whole-exome sequencing. Our study expanded the spectrum of RECQL5 mutations and contributed to genetic diagnosis and counseling of MI and CAD.
Combination with Stereotactic Body Radiotherapy Offers a Promising Strategy to Overcome Resistance to Immunotherapy in Advanced Renal Cell Cancer
Authors: Xiaowen Sun, Lu Gan, Aru Na, Lingling Ge, Baoqing Chen, Jiaming Liu
Journal: J Oncol (2019)
MeSH terms: Review

Immunotherapy for renal cell cancer (RCC) has witnessed several developments for more than two decades. Checkpoint inhibitors, including anti-CTLA-4 and anti-PD-1/PD-L1 blockers, have changed the treatment landscape for patients with advanced RCC in the past 3 years. Despite these advances, more than 55% RCC patients become resistant to different immunotherapies without other treatment combination. Among various attempts at overcoming resistance to immunotherapy, stereotactic body radiotherapy (SBRT) has been found to potentiate the activity of immunotherapy agents through several potential mechanisms, including normalization of microvessels to alleviate tumor hypoxia, improvement in efficient delivery of drugs, abundant neoantigen exposure, and recruitment of antitumor immune cells to alter the immunosuppressive tumor microenvironment. Preclinical studies and clinical case reports have predicted that the combination of SBRT, an immunotherapy, may lead to remarkable results. This review aims to provide the biological basis for the feasibility of combining SBRT to overcome immunotherapy resistance and to review the currently available clinical evidence of this combination therapy in patients with advanced RCC.
High variability of Fabry disease manifestations in an extended Italian family
Authors: Giuseppe Cammarata, Pasquale Fatuzzo, Margherita Stefania Rodolico, Paolo Colomba, Luigi Sicurella, Francesco Iemolo, Carmela Zizzo, Riccardo Alessandro, Caterina Bartolotta, Giovanni Duro, Ines Monte
Journal: Biomed Res Int (2015)
MeSH terms: Fabry Disease / genetics, Family, Case Reports, Adult, Base Sequence, DNA Mutational Analysis, Fabry Disease / enzymology, Female, Humans, Italy, Male, Middle Aged, Molecular Sequence Data, Pedigree, Young Adult, alpha-Galactosidase / genetics, alpha-Galactosidase

Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolase α-galactosidase A (α-GAL). The impairment of α-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the same family. Eight members showed the exonic mutation M51I in the GLA gene, a disease-causing mutation associated with the atypical phenotype. The clinical history of this family highlights a wide phenotypic variability, in terms of involved organs and severity. The phenotypic variability of two male patients is not related to differences in α-GAL enzymatic activity: though both have no enzymatic activity, the youngest shows severe symptoms, while the eldest is asymptomatic. It is noticeable that for two female patients with the M51I mutation the initial clinical diagnosis was different from FD. One of them was diagnosed with Familial Mediterranean Fever, the other with Multiple Sclerosis. Overall, this study confirms that the extreme variability of the clinical manifestations of FD is not entirely attributable to different mutations in the GLA gene and emphasizes the need to consider other factors or mechanisms involved in the pathogenesis of Fabry Disease.
An Enlarged and Infected Prostatic Utricle as a Rare Cause of Lower Urinary Tract Symptoms in Adolescent Males
Authors: Rashida Shakir, Michael G Packer, Zarine R Balsara
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Dysuria with lower abdominal pain is a common presentation for a urinary tract infection (UTI), and diagnosis is based on symptoms together with a urinalysis and urine culture suggestive of infection. UTI is uncommon in circumcised males who are not sexually active. When urine culture is negative, alternate diagnoses including, but not limited to, gastroenteritis, severe constipation, appendicitis, or epididymitis need to be considered. In patients with a known urologic history of proximal hypospadias and/or disorders of sexual development, rarer diagnoses also need to be considered. This paper reports the case of a 13-year-old male with a remote history of proximal hypospadias repair, who presented with nonspecific lower urinary tract symptoms. Initially he was treated for UTI. However, urine cultures remained negative despite persistent urinary tract symptoms. On further workup, he was found to have an enlarged and infected prostatic utricle. This report illustrates the importance of considering an enlarged prostatic utricle in the differential diagnoses of patients with chronic lower urinary tract symptoms and a history of hypospadias. Additionally, this case highlights the utility of magnetic resonance imaging (MRI) in clarifying lower urinary tract anatomy in cases where ultrasound is inconclusive.
Advanced systemic amyloidosis secondary to metastatic renal cell carcinoma
Authors: Maria Asunción Algarra, Maria José Juan Fita, Sergio Sandiego, Héctor Augusto Aguilar, Pablo Álvarez, Mateo Quispe, Antonio Salvador, Adoración Egido, Javier Lavernia, Isidro Machado, José Rubio-Briones, Miguel Ángel Climent
Journal: Ecancermedicalscience (2020)
Keywords: aa amyloidosis, nephrectomy, nephrotic syndrome, renal cell carcinoma, secondary amyloidosis
MeSH terms: Case Reports

Secondary amyloidosis is a rare complex complication related to chronic inflammatory disease. This complication is sparsely associated to malignant neoplasms. Renal cell carcinoma (RCC) is the most common solid organ malignancy related with this paraneoplastic syndrome. Some case reports have described stabilisation or even remission of amyloidosis with cytoreductive nephrectomy. Majority of those reports were based on locally advanced RCC. We report the first case of early aggressive systemic secondary amyloidosis in high-volume metastatic RCC. The subject was diagnosed with metastatic RCC within 6 months of secondary amyloidosis; on month 5 of initiation of targeted therapy (pazopanib) developed nephrotic syndrome with a heavy proteinuria (>18 g/day), severe hypoalbuminaemia (1.53 g/dL), intense and progressive oedema, severe pancolitis and mild dyspnoea with hypotension. A colon biopsy and the immunohistochemistry confirmed the histological diagnosis of a secondary amyloidosis. The multidisciplinary tumour board decided to perform cytoreductive nephrectomy in order to reduce the pro-inflammatory status. Pathology report showed a complete resection of clear cell RCC plus renal amyloid deposits. The patient died within 4 days of surgery due to multiorgan failure.
Plastic surgery and adjuvant chemoradiotherapy in the management of advanced external auditory canal cancer
Authors: Dang Nguyen Van, Thanh Lap Bui, Hoan Pham Van, Minh The Dao, To Ta Van
Journal: Ecancermedicalscience (2022)
Keywords: advanced stages, chemoradiotherapy, external auditory canal, squamous cell carcinoma
MeSH terms: Case Reports

Background:
Carcinoma of the external auditory canal is a rare malignancy that originates in the external auditory canal and has a tendency to spread to adjacent structures such as the periorbital soft tissues, parotid gland, temporomandibular joint and mastoid. It is difficult to determine the primary tumour from the external ear canal or from adjacent structures. In addition, the lack of a unified classification system, along with the rarity of the disease, is a major obstacle in providing specific treatment guidelines for this disease.
Case presentation:
In this report, we describe a clinical case of a 59-year-old male patient who was admitted to the hospital because of ear pain and discharge from the outer ear canal with swelling in the right temporal region. The initial diagnosis is highly suggestive of an advanced external auditory canal malignancy with involvement of the parotid gland. The patient underwent surgery to remove the entire tumour, neck lymph nodes, followed by plastic surgery. The patient then received adjuvant chemoradiotherapy. There was no recurrence of cancer for 28 months, to date, after completing treatment.
Conclusions:
Extensive tumour resection combined with reconstruction and adjuvant chemoradiotherapy is a treatment strategy with good outcomes for patients with advanced squamous cell carcinoma of the external ear canal.
The "sausage" abscess: abscess of the liagamentum teres hepatis
Authors: Debraj Sen, Vijinder Arora, Ravdeep Singh Sohal, Pothina Sree Hari
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

An abscess of the ligamentum teres hepatis is a very rare cause of acute abdomen and can present a diagnostic dilemma. A 40-year-old diabetic male presented with obstructive jaundice and cholangitis. An ill-defined, sausage-shaped, tender parasagittal supraumbilical mass was palpable on the right side. Murphy's sign was negative. Laboratory investigations revealed polymorphonuclear leukocytosis (total leukocyte count 19,000 mm-3), elevated alkaline phosphatase (400 IU l-1), conjugated hyperbilirubinaemia (16 mg dl-1) and elevated blood glucose (240 mg dl-1). Ultrasonography and MR cholangiopancreatography revealed cholecystolithiasis, obstructive choledocholithiasis, abscess of the ligamentum teres hepatis and left portal thrombosis. Under ultrasound guidance, pus was aspirated from the abscess and the patient was started on broad-spectrum intravenous antibiotics, insulin and low-molecular-weight heparin. He subsequently underwent endoscopic retrograde cholangiopancreatography with sphincterotomy and stone extraction. On the tenth day post admission, he underwent laparoscopic cholecystectomy and excision of the ligament. The patient made an uneventful recovery and was discharged on the seventh post-operative day. On follow-up, the patient remained asymptomatic with normal biochemical parameters. This article highlights the importance of suspecting and identifying an abscess of the ligamentum teres hepatis when a patient with acute abdomen presents with a sausage-shaped right parasagittal mass, especially in the setting of cholangitis, cholecystitis or omphalitis.
Ascending cholangitis presenting with Lactococcus lactis cremoris bacteraemia: a case report
Authors: Jane Davies, Michael David Burkitt, Alastair Watson
Journal: J Med Case Rep (2009)

Introduction:
A case of Lactococcus lactis cremoris causing cholangitis is described. This Gram-positive organism is not routinely considered to be pathogenic in immunocompetent individuals. To our knowledge, this is the thirteenth report of invasive infection and the first of cholangitis to be reported in association with this organism.
Case presentation:
A 72-year-old patient presented with Charcot's triad and was demonstrated to have cholangitis with Lactococcus lactis cremoris bacteraemia. Biliary drainage was achieved through endoscopic retrograde cholangiography. Antibiotic therapy with multiple agents was necessary.
Conclusion:
This report provides corroboration of evidence that Lactococcus lactis cremoris is a potential pathogen in immunocompetent adults. There remains a debate about the most appropriate empirical antibiotic therapy in this condition. In the light of this case, it is important to keep an open mind to potential pathogens.
Case Report: Resection of Giant Endotracheal Hamartoma by Electrosurgical Snaring via Fiberoptic Bronchoscopy in a 9-Year-Old Boy
Authors: Lei Wu, Wei Chen, PengCheng Li, Shuxian Li, Zhimin Chen
Journal: Front Pediatr (2021)
Keywords: airway tumors, case report, endotracheal lesions, hamartoma, therapeutic bronchoscopy
MeSH terms: Case Reports

Endotracheal hamartomas are rarely encountered in children. The symptoms of endotracheal hamartoma may include cough, dyspnea, hemoptysis, chest pain, purulent sputum, and fever. The non-specific symptoms often result in a delayed diagnosis. Among the various treatments of this rare disease, surgical resection seems to be the most widely used, while endoscopic treatment is rarely described. Herein, we describe the case of a 9-year-old boy with an endotracheal hamartoma that was successfully excised by electrosurgical snaring via fiberoptic bronchoscopy (FB). The resection of select benign endotracheal tumors in children can be conducted using electrocautery, which can be regarded as an alternative therapy to bronchotomy.
Acute hepatic failure and multi-system organ failure secondary to replacement of the liver with metastatic melanoma
Authors: Gilaad G Kaplan, Shaun Medlicott, Bruce Culleton, Kevin B Laupland
Journal: BMC Cancer (2005)
MeSH terms: Liver / pathology, Liver Neoplasms / secondary, Melanoma / pathology, Skin Neoplasms / pathology, Case Reports, Autopsy, Biopsy, Hepatomegaly / pathology, Humans, Immunohistochemistry, Liver / enzymology, Liver Failure, Acute / pathology, Male, Middle Aged, Neoplasm Metastasis, Respiratory Insufficiency, Time Factors

Background:
Metastatic malignant melanoma to the liver resulting in fulminant hepatic failure is a rare occurrence.
Case presentation:
A 46 year old man presented to hospital with massive hepatomegaly, elevated liver enzymes and increased lactate three weeks following resection of a malignant melanoma from his shoulder (Clark level 5). Initially stable, he decompensated 24 to 48 hours subsequent to presentation with respiratory failure requiring mechanical ventilation, distributive shock requiring high dose vasopressor infusion, coagulopathy refractory to plasma infusion, progressive rise in liver enzymes and severe metabolic abnormalities including hyperkalemia, acidosis, hyperphosphatemia, hyperuricemia and hypocalcemia. Refractory to aggressive physiologic support he received palliation. Autopsy revealed >80% liver infiltration by metastatic malignant melanoma.
Conclusion:
We report a case of fulminant hepatic failure secondary to metastatic malignant melanoma infiltration of the liver.
Primary Bone Marrow B-Cell Lymphoma Undetected by Multiple Imaging Modalities That Initially Presented with Hypercalcemia
Authors: Jin Sae Yoo, Juwon Kim, Hyeong Ju Kwon, Jung Soo Lim
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Purpose:
We report a rare case of severe hypercalcemia that was ultimately diagnosed as primary bone marrow diffuse large B-cell lymphoma (BCL).
Case report:
A 74-year-old male patient visited our hospital complaining of tenderness and swelling of the left knee caused by supracondylar fracture of the left distal femur. His initial blood tests showed a serum calcium level of 13.9 mg/dL, inorganic phosphorus of 4.34 mg/dL, and a serum creatinine level of 1.54 mg/dL. A serum assay of intact parathyroid hormone showed 5.24 pg/mL, and the patient's serum 25(OH)D level was 22.33 ng/mL. To exclude malignancy, we performed imaging studies, including abdomen or chest computed tomography and positron emission tomography-computed tomography; however, no suspicious lesion was found, although the serum PTH-related peptide level was elevated at 4.0 pmol/L. A bone marrow biopsy was performed to identify any hidden hematologic malignancy. As a result, the pathology of bone marrow confirmed the presence of atypical lymphocytes that stained positive for the CD20 marker, which is consistent with BCL involving the bone marrow.
Conclusion:
This case highlights the importance of pursuing a thorough workup for rare underlying causes of hypercalcemia when parathyroid-related etiologies can be excluded.
Extremely low birthweight infant with wolf-hirschhorn syndrome: a dilemma in determination of the optimal timing of delivery
Authors: Shigeo Iijima, Takehiko Ohzeki
Journal: Clin Med Case Rep (2008)
Keywords: wolf-hirschhorn syndrome, extremely low birthweight infant, periventricular leukomalacia, retinopathy of prematurity
MeSH terms: Case Reports

Wolf-Hirschhorn syndrome (WHS) is characterized by multiple malformations as well as mental and developmental defects resulting from the absence of a distal segment of the short arm of chromosome 4. We experienced an extremely low birthweight infant with WHS. The male infant (birthweight 934 g) was born at 31 weeks' gestation by cesarean section due to intrauterine growth restriction and presented with the typical WHS phenotype. Chromosomal analysis showed a deletion: 46,XY,del(4)(p15.3 p16). Although the patient's respiratory distress syndrome resolved favourably and his subsequent condition was also stable, he had unusually severe retinopathy of prematurity and periventricular leukomalacia. We suppose that these severe complications were associated with not only prematurity but also with latent structural fragility due to WHS. Herein, we discuss the prenatal detection of WHS and the optimal timing of delivery.
Non-myeloablative conditioning is sufficient to achieve complete donor myeloid chimerism following matched sibling donor bone marrow transplant for myeloproliferative leukemia virus oncogene ( MPL) mutation-driven congenital amegakaryocytic thrombocytopenia: Case report
Authors: Joseph Hai Oved, Yash B Shah, Kimberly Venella, Michele E Paessler, Timothy S Olson
Journal: Front Pediatr (2022)
Keywords: mpl, aplastic anemia, bone marrow transplant, case report, congenital amegakaryocytic thrombocytopenia
MeSH terms: Case Reports

Background:
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare platelet production disorder caused mainly by loss of function biallelic mutations in myeloproliferative leukemia virus oncogene (MPL), the gene encoding the thrombopoietin receptor (TPOR). Patients with MPL-mutant CAMT are not only at risk for life-threatening bleeding events, but many affected individuals will also ultimately develop bone marrow aplasia owing to the absence of thrombopoietin/TPOR signaling required for maintenance of hematopoietic stem cells. Curative allogeneic stem cell transplant for patients with CAMT has historically used myeloablative conditioning; however, given the inherent stem cell defect in MPL-mutant CAMT, a less intensive regimen may prove equally effective with reduced morbidity, particularly in patients with evolving aplasia.
Methods:
We report the case of a 2-year-old boy with MPL-mutant CAMT and bone marrow hypocellularity who underwent matched sibling donor bone marrow transplant (MSD-BMT) using a non-myeloablative regimen consisting of fludarabine, cyclophosphamide, and antithymocyte globulin (ATG).
Results:
The patient achieved rapid trilinear engraftment and resolution of thrombocytopenia. While initial myeloid donor chimerism was mixed (88% donor), due to the competitive advantage of donor hematopoietic cells, myeloid chimerism increased to 100% by 4 months post-transplant. Donor chimerism and blood counts remained stable through 1-year post-transplant.
Conclusion:
This experience suggests that non-myeloablative conditioning is a suitable approach for patients with MPL-mutant CAMT undergoing MSD-BMT and is associated with reduced risks of conditioning-related toxicity compared to traditional myeloablative regimens.
Case report: Physical findings, physical therapy practice, and characteristics of disability of activities of daily living caused by obturator nerve palsy after neurotmesis
Authors: Daichi Shima, Tokio Kinoshita, Yasunori Umemoto, Yoshinori Yasuoka, Takamasa Hashizaki, Makoto Asaeda, Yukihide Nishimura, Tamaki Yahata, Takashi Shimoe, Fumihiro Tajima
Journal: Front Neurol (2023)
Keywords: activities of daily living, case report, obturator nerve, peripheral nerve injury, rehabilitation
MeSH terms: Case Reports

The obturator nerve originates from the lumbar plexus and innervates sensation in the thigh and movement of the adductor muscle group of the hip. Reports on physical therapy for patients with obturator nerve injuries have been limited due to insufficient injuries, and there have been no reports on rehabilitation after neurotmesis. Furthermore, there are no reports on the status of activities of daily living (ADL) and details of physical therapy in patients with paralysis of the adductor muscle group. In this study, we reported on a patient with adductor paralysis due to obturator neurotmesis, including the clinical symptoms, characteristics of ADL impairment, and effective movement instruction. The patient is a woman in her 40's who underwent laparoscopic total hysterectomy, bilateral adnexectomy, and pelvic lymph node dissection for uterine cancer (grade-2 endometrial carcinoma). During pelvic lymph node dissection, she developed an obturator nerve injury. She underwent nerve grafting during the same surgery by the microsurgeon. Donor nerve was the ipsilateral sural nerve with a 3-cm graft length. Due to obturator nerve palsy, postoperative manual muscle test results were as follows: adductor magnus muscle, 1; pectineus muscle, 1; adductor longs muscle, 0; adductor brevis muscle, 0; and gracilis muscle, 0. On postoperative day 6, the patient could independently perform ADL; however, she was at risk of falling toward the affected side when putting on and taking off her shoes while standing on the affected leg. The patient was discharged on postoperative day 8. Through this case, we clarified the ADL impairment of a patient with adductor muscle palsy following obturator neurotmesis, and motion instruction was effective as physical therapy for this disability. This case suggests that movement instruction is important for acute rehabilitation therapy for patients with hip adductor muscle group with obturator neurotmesis.