OpenMed/multicare-articles huggingface dataset:
Bacterial infections in patients with nipple piercings: a qualitative systematic review of case reports and case series
Authors: Luis M Acuña-Chávez, Christian A Alva-Alayo, Giamfranco A Aguilar-Villanueva, Kevin A Zavala-Alvarado, Cristhian A Alverca-Meza, María M Aguirre-Sánchez, Anyelo A Amaya-Castro
Journal: GMS Infect Dis (2022)
Keywords: mesh-nlm, bacterial infections, breast abscess, nipple piercing
MeSH terms: Review

The main objective of this review is to identify the most frequently isolated bacteria in patients with infections related to nipple piercings in case reports and case series. In addition, the aim is to describe clinical manifestations and antecedents. There is a protocol of this review. The terms "bacterial infections", "nipple piercing" and their synonyms were considered. Pubmed/Medline, Scopus, Embase, Web of Science core collection and Ovid/Medline databases were searched until November 15, 2021 without date or language restrictions. Two authors extracted the articles and three other authors performed the selection, first by title and abstract, and second by full-text revision. Discrepancies were resolved with yet two other authors. Quality was assessed using the Joanna Briggs checklists. Finally, data extraction was realized. A total of 1,531 articles were extracted, of which 20 articles were included, and one article was added by hand-searching. The final number of articles included was 21, all of them with acceptable quality of evidence. Twenty-seven patients were considered (23 women and 4 men), aged between 15-60 years old. The most frequent bacterial genus in case reports and case series was Staphylococcus (n=10), and the most frequent species was M. fortuitum (n=6), although etiology seems to be diverse. The breast was the main affected organ, and the most frequent findings were fluid collection, pain, erythema, granulation tissue and swelling. The suspicion of infection by this bacterial species could be taken into account when it is associated with nipple piercings; however, larger studies are required to give a conclusion based on the evidence.
IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report
Authors: Yan Gong, Xiao Ping Lan, Sheng Guo
Journal: Front Pediatr (2023)
Keywords: cagsss, iars2, hypoparathyroidism, mitochondrial disease, sideroblastic anemia
MeSH terms: Case Reports

Background:

IARS2 (EC6.1.5) is a mitochondrial isoleucine-tRNA synthetase. Despite the fact that only fewer than 30 patients have been reported in the literature, mitochondrial disorders caused by pathogenic variants in the IARS2 gene (OMIM: 616007) have a very broad and variable clinical phenotype spectrum. We present a child who has sideroblastic anemia and hypoparathyroidism as a result of a previously unreported mutation in the IARS2 gene.
Case presentation:
A 14-year-old girl who had been anemic for 12 years was diagnosed with pure red cell aplasia (hemoglobin 42 g/L, reference range 110-160) at the age of 2. Her anemia was resistant to high-dose intravenous gamma globulin and cyclosporine therapy and required monthly blood transfusions to maintain normal hemoglobin levels. She developed cataracts at the age of 6 and was cured by phacoemulsification. At the age of 8, she visited the endocrine department, because of mental and physical retardation accompanied by repeated convulsions, and the antiepileptic treatment was ineffective. She was diagnosed with hypoparathyroidism. To control the convulsions, she was given calcitriol orally as well as large doses of calcium supplements. Due to severe growth and development delays, delayed sexual development, and hypokinesia at the age of 13.5Y, the parents agreed to a whole-exon gene sequencing test. IARS2 gene compound heterozygous variants c.2450G > A (p.Arg817His) and c.2511del (p.Leu838Phefs*69) were discovered. The girl was then diagnosed with IARS2-related disease and given a cocktail therapy of coenzyme Q10, vitamin B2, L-Carnitine and vitamin E. Although the child's clinical symptoms improved, she still experienced intermittent claudication and hip joint pain. The vitamin B6 was discontinued after three months due to its ineffectiveness in treating anemia. Because the child's ferritin levels remained elevated, she was also prescribed long-term oral deferiprone therapy.
Conclusion:
Our findings broaden the clinical and genetic spectrum of IARS2-associated disease, and case summaries help raise clinical awareness of IARS2-associated disease and reduce under- and misdiagnosis.
Pilomatrix carcinoma of the right postauricular region: A case report and literature review
Authors: Shabiah Martin, Jana DeJesus, Ann Jacob, Teah Qvavadze, Claudio Guerrieri, Rachel Hudacko, Thaddeus Boucree
Journal: Int J Surg Case Rep (2019)
Keywords: case report, local recurrence, malignant pilomatrixoma, pilomatrix carcinoma, wide local excision

Introduction:
Pilomatrix carcinoma is a rare aggressive tumor with a high rate of local recurrence after surgical excision. Diagnosis is made by histopathology and when discovered, wide local excision has been shown to have the best results.
Presentation of case:
We report a case of a 74-year-old male incidentally found to have a large right postauricular mass and regional lymphadenopathy. The mass was biopsied and proven to be a malignant pilomatrixoma. Wide local excision and level II and III neck dissection with reconstruction using a right supraclavicular flap was performed.
Discussion:
Pilomatrix carcinoma is a lesion first described in 1880 by Malherbe and Chenantais. It is unknown if these tumors arise de novo or arise through malignant transformation of a benign pilomatrixoma. There are similarities between the benign lesion and its malignant counterpart in terms of activating mutations in signaling pathways. A well-defined gold standard for surgical management has not been established, but currently wide local excision with safe margins is recommended along with regional lymph node dissection when metastasis is suspected. Currently, no chemotherapy regimen has been shown to be effective in local control or in preventing metastatic spread.
Conclusion:
Pilomatrix carcinoma, given its aggressive nature, has a high propensity for recurrence after excision. It is important to perform wide local excision to avoid an incomplete resection and higher recurrence rates. Further studies will be needed to create a more defined standard of treatment and to evaluate the role of adjuvant chemotherapy and radiation therapy.
Respiratory syncytial virus as a cause of pulmonary hemorrhage in a low birth weight infant: strategies for protection and prevention: a case report
Authors: Shetal Shah, Martha Caprio
Journal: Cases J (2009)

Introduction:
Respiratory syncytial virus is a common neonatal pathogen. Here we present a case of a premature, low birth weight infant who contracted respiratory syncytial virus and developed a severe pulmonary hemorrhage.
Case presentation:
A 12-day-old Asian male, former 30 week premature infant with a birth weight of 1025 grams presented with nasal secretions, episodes of desaturations and increased work of breathing. The infant developed a pulmonary hemorrhage. Secretions during tracheal lavage were positive for respiratory syncytial virus on rapid fluorescence assay. After supportive care, the patient improved. Isolation, cohorting techniques and reinforcement of strict hand-washing guidelines prevented and outbreak to other infants.
Conclusion:
This original case report presents an uncommon presentation of respiratory syncytial virus infection, a common pediatric pathogen. Neonatologists should consider evaluating patients with pulmonary hemorrhage for respiratory syncytial virus if preceding symptoms are consistent with that infectious illness.
A Primary Extraskeletal Osteosarcoma of the Spleen: Rare Case Report
Authors: Xian Pan, Han-Lu Wang, Shi-Ming Lin, Jia-Li Lin, Dan-Dan Ruan, Jian-Hui Zhang, Ting Chen, Jie-Wei Luo, Zhu-Ting Fang
Journal: Front Oncol (2022)
Keywords: calcification, extraskeletal osteosarcoma, osteosarcoma, soft tissue tumor, spleen
MeSH terms: Case Reports

Extraskeletal osteosarcoma is a rare malignant soft-tissue sarcoma that is difficult to diagnose. Surgery is a common treatment, although chemotherapy and radiotherapy are also used. Patients at risk of bleeding can undergo embolization combined with resection. The occurrence of primary splenic extraskeletal osteosarcoma in humans does not seem to have been reported in the literature. A 50-year-old woman who complained of pain in the left upper abdomen for 1 day was initially diagnosed with "splenic hemangioma with a high possibility of rupture and bleeding" and urgently underwent digital subtraction angiography, combined with splenic arteriography and embolization. Abdominal pain worsened 2 days postoperatively, with a hemoglobin level of 106.0 g/L. Consequently, emergency laparotomy combined with splenectomy was performed. The clinical and imaging features, pathological diagnosis, and embolization treatment of this case were analyzed retrospectively. CT of the upper abdomen revealed splenomegaly, an irregular low-density shadow in the spleen, and a flake-like calcification in the lateral margin of the left kidney. Nuclear MRI of the upper abdomen showed splenomegaly and a mass (approximately 8.4 cm × 5.7 cm × 6.3 cm) below the spleen with clear boundaries-this exhibited an uneven signal, which was slightly low in T1-weighted imaging (T1WI) and slightly high in T2-weighted imaging (T2WI). Several small cystic lesions or cystic cavities were observed in the mass, which exhibited a longer T2 signal. During the enhanced scan, the signal of the lesion showed progressive enhancement, and the enhancement range increased in the delayed phase scan, as well as a hematoma below the spleen capsule and calcification below the lesion (nodular T1WI/T2WI hypointense, approximately 3.3 cm × 3.6 cm). Postoperative biopsy pathology showed splenic soft tissue tumor: at low magnification, the multinucleated giant cells were scattered; at medium magnification, osteoclast-like multinucleated giant cells were observed; and at high magnification, lace- or grid-like tumor osteogenesis was detected. Immunohistochemistry showed that the expression of CD31, CD34, F8, s-100, desmin, SMA, and CD99 was negative, whereas the expression of β-catenin, BCL-2, SATB-2, and P16 was positive. CD68 and MDM-2 showed low expression, while 50% of the cells were positive for Ki-67 expression. No abnormal concentration of radioactivity was found on the bone scan with 99mTc-MDP after the operation, further ruling out the occurrence of other bone tumors. The patient was diagnosed with primary extraskeletal osteosarcoma. It is necessary for multidisciplinary teams to diagnose malignant extraskeletal osteosarcomas.
Flakka-Induced Prolonged Psychosis
Authors: Craig Crespi
Journal: Case Rep Psychiatry (2016)

In South Florida, there has been a highly addictive new synthetic drug flooding the streets for people looking for a cheap high. Alpha-PVP, better known as Flakka, is an illegal substance that sells on the streets for as little as $5 a hit and delivers an instant high that can last from hours to days with lingering effects for weeks after it has been ingested. Although people use Flakka for its potential euphoric high, symptoms are known to easily escalate into frightening delusions, paranoid psychosis, extreme agitation, and a multitude of other altered mental states. According to the National Institute on Drug Abuse, Florida appears to be the nation's hot spot for reports of Flakka. In this case report, a 17-year-old female with no prior psychiatric diagnosis presents to the hospital under a 72-hour involuntary placement for altered mental status with agitation and psychotic behaviors. After multiple days of symptomatic treatment with benzodiazepines and antipsychotics, the patient became coherent enough to give a history of a "friend" putting Flakka in her food at school as a joke. Although she continues to have residual symptoms including psychomotor agitation and slowing of cognition, she was alert, oriented, and able to be discharged home with proper follow-up.
Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome
Authors: Huifang Peng, Jie Wang, Yanyun Liu, Haiping Yang, Liping Li, Yujin Ma, Huiqin Zhuo, Hongwei Jiang
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: wrn gene, werner syndrome, diabetic foot disease, myelodysplastic syndrome (mds), novel mutation
MeSH terms: Diabetes Mellitus, Diabetic Foot / complications, Diabetic Foot / genetics, Myelodysplastic Syndromes / complications, Werner Syndrome / complications, Werner Syndrome / epidemiology, Werner Syndrome / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Humans, Male, Mutation, Werner Syndrome Helicase / genetics, WRN protein, human, Werner Syndrome Helicase

Werner syndrome is an autosomal recessive rare disease caused by a WRN gene mutation, which is rarely reported in the Chinese population. We report the clinical and genetic data of a Chinese patient with Werner syndrome. The proband was a 40-year-old male patient who presented with diabetic foot ulcers, accompanied by short stature, cataracts, hypogonadism, and hair thinning, and myelodysplastic syndrome (MDS) occurred after 18 months. Genetic sequencing showed there were compound heterozygous mutations as c.3384-1G>C and c.3744dupA in the WRN gene. The c.3744dupA mutation is a novel pathogenic variation for Werner syndrome.
Severe Metabolic Acidemia in a Patient with Aleukemic Leukemia
Authors: Moutaz Ghrewati, Faiza Manji, Varun Modi, Chandra Chandran, Michael Maroules
Journal: Case Rep Nephrol (2018)
MeSH terms: Case Reports

Malignancy associated lactic acidosis is a rare metabolic complication that may accompany various types of malignancies. To date, most cases that have been reported are associated with hematologic malignancies (lymphoma and leukemia). Many theories have been proposed to explain the pathophysiology of lactic acidosis in malignancies. We are reporting an unusual case of a 62-year-old female who presented with a complaint of generalized weakness. Patient was found to have pancytopenia and metabolic acidosis with an anion gap secondary to lactic acid in addition to non-anion gap acidosis (NAGA). The lactic acidosis resolved only after initiation of chemotherapy as she was diagnosed with B-cell acute lymphoblastic leukemia. Our patient also had a coexistent Renal Tubular Acidosis (RTA) with large kidneys. The kidney size also decreased with chemotherapy. Our case is unique as evidenced by aleukemic leukemia combined with anion gap acidosis and non-anion gap acidosis. Lactic acidosis has many different causes; although rare, hematologic malignancies should be included in the differential diagnosis regardless of cell counts or tumor burden.
Electrochemotherapy as Promising Treatment Option in Rare Recurrent Cutaneous Neoplasm of the Scalp: Case Report of an Elderly Patient
Authors: Edoardo Crimini, Michela Roberto, Valter Degli Effetti, Paolo Marchetti, Andrea Botticelli, Francesca Matilde Schipilliti, Giulia Arrivi, Federica Mazzuca
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Background:
Atypical fibroxanthoma (AFX) is a tumor that commonly presents on the head or neck in older individuals. Making a definitive diagnosis of AFX is challenging, and frequently, it is hard to distinguish from pleomorphic dermal sarcoma (PDS). There are no clear recommendations regarding the treatment of AFX, but an extensive surgery is actually considered the best option. Electrochemotherapy (ECT) is a novel therapeutic modality of local treatment in which the application of electrical pulses, enhancing cell membrane permeability, allows greater intracellular accumulation of chemotherapy drugs in the skin or subcutaneous tumors.
Case report:
We report a case of a 78-year-old male affected by a red, ulcerative, dermal, scalp nodule, which was treated with ECT with a complete clinical response. We have also reported literature data on this topic.
Results:
In this case, ECT showed to be an effective and safe treatment for recurrent neoplasms of the head and neck, considering the complete response obtained and the absence of disease relapse after two years.
Conclusion:
To the best of our knowledge, this is the first case report that shows great clinical results using ECT after surgery in relapsed AFX/PDS. However, more studies are needed to confirm our results.
A Shot That Hits the Tumor: Incidental Finding of Early Colon Cancer in a Gunshot Wound Specimen-The Role of Pathologic Examination
Authors: Neda Soleimani, Sara Pakbaz
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

This report presents incidental finding of early colorectal cancer in an adult patient with gunshot injury. The patient was a 41 y/o man, transferred to our center due to gunshot wound to his abdomen and back. A well differentiated adenocarcinoma, stage I, was incidentally identified during pathologic examination on his segmental proctectomy specimen. This singular case highlights the necessity of caring for all removed tissues, indicating how important they are for both clinicians and pathologists.
Prenatal gunshot wound, a rare cause of maternal and fetus trauma, a case report
Authors: Gabriel A Molina, William G Aguayo, J Marcelo Cevallos, Patricio F Gálvez, Juan F Calispa, Kevin A Arroyo, Lenin J Guzmán, María M Cobo, Bernardo M Gutierrez, Ronald T Toapanta, María M Briceño
Journal: Int J Surg Case Rep (2019)
Keywords: case report, fetal trauma, gunshot wound, maternal trauma

Background:
Gunshot wounds in pregnant women, although rare, represent an important cause of fetal and maternal mortality. Understanding the mechanism of injury is essential to identify the possible injuries and to adequately manage the complexity of these emergency scenarios.
Case presentation:
We present a case of a 27-year-old woman and her 37 week fetus who were the victims of a gunshot wound. The trajectory of the bullet injured not only the mother but also the developing fetus. An emergency c-section was performed and the bullet was removed from the infant's abdomen. The two patients fully recovered and on follow up controls both patients are doing well.
Conclusions:
Trauma events, and particularly gunshot wounds in pregnant women requires promptly and adequate intervention. Coordinated efforts from multidisciplinary clinical teams are needed as well as the appropriate training in maternal and infant resuscitative measures and surgical techniques.
Anti-IgLON5 Disease: A Case With 11-Year Clinical Course and Review of the Literature
Authors: Mette Scheller Nissen, Morten Blaabjerg
Journal: Front Neurol (2019)
Keywords: iglon5, autoimmune encephalitis, immunology, inflammation, tau
MeSH terms: Case Reports

Background: Anti-IgLON5 disease is a novel disorder with a complex interplay between inflammation and neurodegeneration. Patients develop antibodies against IgLON5 but also deposition of neuronal tau protein. Symptoms often have an insidious onset, slow progression and mimic other neurological disorders. Here we report a case with severely prolonged 11-year disease course and provide a review of current reported cases with focus on presentation, work-up, treatment, and outcome. Method: All reported cases of anti-IgLON5 disease were evaluated. Cases reported twice (in case series and as single case reports), were carefully excluded. Results: Most patients display a characteristic sleep disorder with severe insomnia, non rapid eye movement (NREM) parasomnia, with finalistic movements and sleep disordered breathing (stridor and obstructive sleep apnea). Other symptoms are bulbar involvement, gait instability, movement disorders, oculomotor abnormalities, dysautonomia, and peripheral symptoms. Antibodies are present in both serum and CSF and there is a strong correlation with human leukocyte antigen (HLA) DRB1*10:01 and HLA-DQB1*05:01. Neuropathological examination reveals neurodegeneration with neuronal tau deposits in regions that correlate with the clinical presentation (e.g., predominantly hypothalamus and tegmentum of the brain stem). Majority of cases respond partially to immunotherapy. Cases, who received no treatment or treatment with IV corticosteroids alone, had a higher mortality than cases treated with more potent immunotherapy. Conclusion: The clinical spectrum of Anti-IgLON5 disease continues to expand. Further studies are needed to elucidate the pathophysiology, therapeutic strategies and outcome in this novel disorder. Aggressive immunotherapy seems to increase survival.
Intraneural Synovial Cyst of the Common Peroneal Nerve: An Unusual Cause of Foot Drop with Four-Year Follow-Up
Authors: Abrar Adil, Clint Basener, Jake Checketts
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

In our case report, we describe a 55-year-old male patient with isolated foot drop due to an intraneural synovial ganglion. We successfully treated the lesion with decompression via epineurotomy combined with primary division of the recurrent articular branch of the common peroneal nerve (CPN). Compression neuropathies of the common peroneal nerve arise from a variety of causes. Intrinsic compression due to intraneural ganglion cysts of the CPN is rare. Previous reports of simple decompression of the cystic fluid have resulted in recurrence. The unified articular theory describes a pathway for fluid to fill from the proximal tibiofibular joint into the CPN via a recurrent articular branch. In our case, we divide this articular branch which we feel prevents recurrence.
Complete Cranial Iliac Osteotomy to Approach the Lumbosacral Foramen
Authors: Barbara Dyall, Hugo Schmökel
Journal: Front Vet Sci (2017)
Keywords: canine, foramen, lumbosacral degeneration, osteotomy, surgical approach
MeSH terms: Case Reports

An approach using a complete cranial iliac osteotomy (CCIO) to access the lumbosacral (LS) foramen in dogs from lateral was developed using cadavers and applied in a clinical patient with degenerative lumbosacral stenosis (DLSS). The foraminal enlargement in the cadavers and the patient was documented on postoperative CT scans. The preoperative CT scan of the patient showed moderate cranial telescoping of the sacral roof and a moderate central disk protrusion, leading to moderate to severe compression of the cauda equina. In addition, there was lateral spondylosis with consequential stenosis of the right LS foramen. The right L7 nerve had lost its fat attenuation and appeared thickened. After a routine L7S1 dorsal laminectomy with a partial discectomy, a CCIO was performed, providing good access to the LS foramen and the adhesions around the proximal L7 nerve caudoventral to the foramen. The osteotomy was stabilized with a locking plate and a cerclage wire. The dog recovered well from the procedures and after 36 h, the dog walked normally and was discharged from the hospital. Eight and 16 weeks later, the signs of the DLSS had markedly improved. From these data, it can be concluded that the CCIO is a useful approach to the LS foramen and intervertebral disk in selected patients with DLSS, giving good access to the structures around the LS foramen.