OpenMed/multicare-articles huggingface dataset:
Colonization of a Central Venous Catheter by the Hyaline Fungus Fusarium solani Species Complex: A Case Report and SEM Imaging
Authors: Alberto Colombo, Giuseppe Maccari, Terenzio Congiu, Petra Basso, Andreina Baj, Antonio Toniolo
Journal: Case Rep Med (2013)

The incidence of opportunistic infections by filamentous fungi is increasing partly due to the widespread use of central venous catheters (CVC), indwelling medical devices, and antineoplastic/immunosuppressive drugs. The case of a 13-year-old boy under treatment for acute lymphoblastic leukemia is presented. The boy was readmitted to the Pediatric Ward for intermittent fever of unknown origin. Results of blood cultures drawn from peripheral venous sites or through the CVC were compared. CVC-derived bottles (but not those from peripheral veins) yielded hyaline fungi that, based on morphology, were identified as belonging to the Fusarium solani species complex. Gene amplification and direct sequencing of the fungal ITS1 rRNA region and the EF-1alpha gene confirmed the isolate as belonging to the Fusarium solani species complex. Portions of the CVC were analyzed by scanning electron microscopy. Fungi mycelia with long protruding hyphae were seen into the lumen. The firm adhesion of the fungal formation to the inner surface of the catheter was evident. In the absence of systemic infection, catheter removal and prophylactic voriconazole therapy were followed by disappearance of febrile events and recovery. Thus, indwelling catheters are prone to contamination by environmental fungi.
Stabilization of bilateral progressive rheumatoid corneal melt with infliximab
Authors: Sheelah F Antao, Tariq Ayoub, Hasan Tahir, Dipak N Parmar
Journal: Case Rep Ophthalmol Med (2012)
MeSH terms: Case Reports

Purpose. To report the use of infliximab in the rapid stabilization of a case of progressive, bilateral rheumatoid peripheral ulcerative keratitis (PUK) that failed to respond to conventional immunosuppressive therapy. Methods. A single interventional case report. Results. A patient with rheumatoid arthritis presented with bilateral PUK following a 2-month history of ocular discomfort and redness. His systemic prednisolone (PDN) and methotrexate (MTX) were increased and, despite an initial favorable response, bilateral recurrent corneal perforations ensued. Both eyes underwent cyanoacrylate glue repair, amniotic membrane transplantation (AMT), and penetrating keratoplasty (PKP). Recurrence of the disease and bilateral perforations of the second PKP in both eyes prompted administration of intravenous infliximab immediately after the fourth PKP. The disease activity rapidly settled in both eyes, and at eighteen-month followup, after 12 infliximab infusions, the PUK remains quiescent with no further graft thinning or perforation. Conclusion. Infliximab can be used to arrest the progression of severe bilateral rheumatoid PUK in cases that are refractory to conventional treatment.
A giant calcified aneurysm of the basal inferior wall: a rare phenomenon
Authors: Emna Bennour, Ahmed Sghaier, Amine Jemel, Lobna Laroussi, Kamoun Ikram, Sonia Marrakchi, Neji Henda, Kachboura Salem
Journal: Pan Afr Med J (2020)
Keywords: aneurysm, basal wall, left ventricle, myocardial infarction
MeSH terms: Heart Aneurysm / diagnostic imaging, Heart Ventricles / pathology, Myocardial Infarction / complications, Case Reports, Aged, 80 and over, Calcinosis / diagnostic imaging, Echocardiography, Female, Heart Aneurysm / etiology, Heart Aneurysm / surgery, Heart Ventricles / surgery, Humans, Quality of Life

Left ventricular aneurysms (LVA) are mainly a late consequence of transmural myocardial infarction. Approximately 80% of LVA are located in the anterior and/or apical walls, most commonly associated with left anterior descending artery occlusion but any region may be engaged. Basal inferior wall aneurysms are rare and constitute nearly 3% of all LVA. A calcified LVA is seldom observed in modern clinical practice. And a calcified basal inferior LVA is an even rarer coincidence. We report a case of an 82-year-old women with life threatening arrhythmia revealing a giant calcified aneurysm of the basal inferior wall, medically treated with good outcomes. The exact incidence of left ventricular aneurysms (LVA) following myocardial infarctions is hard to precise but it is clearly decreasing. Eighty percent (80%) of LVA are located in the anterior or apical walls, but any region may be engaged. Basal inferior wall aneurysms constitute 3% of all LVA. Echocardiography is the first diagnostic tool and there is still no clear guidelines on how to treat LVAs. Surgery is preferred but medical treatment may help improve the quality of life.
Presumptive Dipylidium caninum Infection in a Toddler
Authors: Hannah F Chong, Roukaya Al Hammoud, Michael L Chang
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

We report a female toddler who presented repetitively with a chief complaint of motile white worms seen in her diapers. Symptoms of perianal itching and visualization of visible motile worms persisted for 6 months despite being treated with multiple courses of albendazole causing a lot of frustration and distress to the caregivers. The characteristics of the worms by inspection along with the presence of 3 pet dogs are consistent with Dipylidium caninum.
Clear cell gynecologic carcinomas: about 5 cases
Authors: Bergaoui Haifa, Zouari Ines, Njima Manel, Daldoul Amira, Zaied Sonia, Njim Laila, Mhabrech Houda, Hadded Anis, Felah Raja
Journal: Pan Afr Med J (2019)
Keywords: clear cell carcinoma, chemotherapy, gynecologic carcinoma, surgery
MeSH terms: Adenocarcinoma, Clear Cell / diagnosis, Endodermal Sinus Tumor / diagnosis, Genital Neoplasms, Female / diagnosis, Case Reports, Adenocarcinoma, Clear Cell / pathology, Adenocarcinoma, Clear Cell / therapy, Adult, Aged, 80 and over, CA-125 Antigen / analysis, Diagnosis, Differential, Endodermal Sinus Tumor / pathology, Female, Genital Neoplasms, Female / pathology, Genital Neoplasms, Female / therapy, Humans, Middle Aged, Prognosis, Retrospective Studies, Young Adult, alpha-Fetoproteins / analysis, AFP protein, human, CA-125 Antigen, alpha-Fetoproteins

Clear cell carcinoma (CCC) can simulate yolk sac tumor if the location is ovarian. In this case, the morphological distinction between these tumors is often difficult, but immunohistochemistry, the determination of CA125, of alpha fetoprotein (AFP) and the response to chemotherapy are particularly useful for solving this differential diagnosis problem. Endometrial and vaginal localization is even rare and appears to be related to distilbene uptake for vaginal localization. Whatever the gynecological location, CCC seems to have a poor prognosis. We report 5 cases of gynecological CCC including 1 case of vaginal carcinoma, 1 case of endometrial carcinoma and 3 cases of ovarian carcinoma. The definitive pathological examination concluded with the CCC diagnosis for all cases. Our purpose is to report these rare cases, their diagnosis, prognosis and therapeutic management.
Conus medullaris syndrome due to an intradural disc herniation: a case report
Authors: Kshitij S Chaudhary, Mihir R Bapat
Journal: Indian J Orthop (2008)
Keywords: conus medullaris syndrome, intradural disc herniation

A 70-year-old male patient developed acute paraplegia due to conus medullaris compression secondary to extrusion of D12-L1 disc. After negative epidural examination intraoperatively, a durotomy was performed and an intradural disc fragment was excised. Patient did not regain ambulatory status at two-year follow-up. Intraoperative finding of negative extradural compression, tense swollen dura and CSF leak from ventral dura should alert the surgeon for the possibility of intradural disc herniation. A routine preoperative MRI is misleading and a high index of suspicion helps to avoid a missed diagnosis.
Pulpo-Periodontal Regeneration: Management of Partial Failure Revascularization
Authors: Said Dhaimy, Sara Dhoum, Hind Amarir, Hafsa El Merini, Sellama Nadifi, Amal El Ouazzani
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

The aim of this work is to present a case of management of an open apex on a lower molar by using tissue engineering, with two endodontic procedures in the same tooth. We had to resort to pulp regeneration on the distal root and apexification with MTA on the mesial roots after the failure of regenerative therapy on those ones. The management consisted in scheduling regular follow-ups combined with X-rays. After 24 months, the radiological control has shown pulpo-periodontal regeneration associated with walls thickening and distal root elongation and periapical ad integrum healing.
Atypical Causes of Urinary Tract Obstruction
Authors: Ernie Yap, Moro Salifu, Tahir Ahmad, A Sanusi, Anthony Joseph, Mary Mallappallil
Journal: Case Rep Nephrol (2019)
MeSH terms: Case Reports

Acute kidney injury due to urinary tract obstruction invariably suggests lower urinary tract obstruction or bilateral ureteric obstruction since obstruction of a single kidney while the contralateral kidney is normal and not obstructed would not cause a perceptible rise in creatinine. Assuming a total body volume of 42 L, 70 kg male that generates approximately 1400 mg of creatinine daily (20 mg/kg/day) who has complete urinary tract obstruction would experience a 3.33 mg/dL per day increase in serum creatinine. Thus, for an individual who had prior normal renal function and who presents with a creatinine of 30 mg/dL, one could surmise that the obstructive pathology had lasted at least 10 days. However, the rise in serum creatinine is a poor marker of renal injury and subsequent prognosis. Urinary tract obstruction leading to AKI can be due to a variety of causes, and its management is tailored to the underlying etiology. This case series describes the varied clinical course of four patients at our center who experienced AKI from atypical causes of obstructive uropathy. Current and future diagnostic modalities and caveats in the treatment of this disease entity are also discussed.
Spontaneous Rupture of Renal Metastasis from Hepatocellular Carcinoma
Authors: Osamu Kinoshita, Yusuke Ichijo, Masayuki Yoneda, Atsushi Ikai, Tetsuro Yamashita
Journal: Case Rep Surg (2017)
MeSH terms: Case Reports

We report a rare life-threatening case of spontaneous rupture of renal metastasis from hepatocellular carcinoma (HCC) that was managed by emergent transcatheter arterial embolization (TAE). A 76-year-old woman diagnosed with HCC presented with acute back pain in her right side and was transferred to our hospital. Initial enhanced computed tomography revealed retroperitoneal hemorrhage from the right kidney, which was retrospectively diagnosed as a spontaneous rupture of the metastatic renal tumor from the primary HCC. Detailed examination identified an active retroperitoneal hemorrhage from the lesion and the patient's condition became hemodynamically unstable; hence emergent TAE was performed. The hospitalization period after the TAE was uneventful and sorafenib was subsequently administered. Unfortunately, two months after the TAE, the tumor locally progressed within the retroperitoneal space. Tumors were controlled by repeated TAE as the patient did not want to undergo a nephrectomy. Consequently, she survived for more than one year after emergent TAE, exhibiting low levels of tumor marker. After rupture of the metastatic renal HCC, tumors were expected to progress into the retroperitoneal space, and nephrectomy was the next possible radical treatment to offer the best chance of long-term disease control.
Case Report: Complete Maternal Uniparental Isodisomy of Chromosome 5 (iUPD(5)mat) With PCSK1 Nonsense Variant in an Infant With Recurrent Diarrhea
Authors: Yanyan Qian, Bingbing Wu, Renchao Liu, Yulan Lu, Ping Zhang, Caihong Shao, Ying Huang, Huijun Wang
Journal: Front Genet (2021)
Keywords: pcsk1 gene, diarrhea, genetics, infant, uniparental isodisomy
MeSH terms: Case Reports

Congenital diarrhea diseases are a heterogeneous group of conditions and are the major cause of neonatal mortality worldwide. Proprotein convertase 1/3 (PC1/3) deficiency has been associated with severe malabsorptive diarrhea, obesity, and certain endocrine abnormalities. We report an infant born to non-consanguineous parents who is diagnosed with PC1/3 deficiency due to nonsense homozygous variant (c.238 C>T, p.Arg80Ter) in the PCSK1 gene, identified by Trio-exome sequencing (Trio-ES). The baby girl presented with recurrent diarrhea, transient liver dysfunction and hypoglycemia. Trio-ES showed complete maternal uniparental isodisomy (iUPD) of chromosome 5. Our finding provides accurate genetic counseling to this family and expands the clinical spectrum of iUPD with pathogenic variants causing recessive disease.
Septic mesenteric venous thrombophlebitis: a rare complication of acute appendicitis
Authors: Stylianos Kykalos, Georgios C Sotiropoulos, Spiridon Vernadakis
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Mesenteric venous thrombophlebitis represents a very rare complication of acute appendicitis. Based on the findings of a 45-year-old patient with mesenteric venous thrombophlebitis due to acute appendicitis, we herein describe the diagnostic difficulties and therapeutic options in this uncommon disease. The treatment in our case consisted of simple appendectomy and perioperative anticoagulation therapy.
An Algorithmic Approach to the Management of Infantile Digital Fibromatosis: Review of Literature and a Case Report
Authors: Elizabeth H Eypper, Johnson C Lee, Ashley J Tarasen, Maxene H Weinberg, Oluwaseun A Adetayo
Journal: Eplasty (2018)
Keywords: extremity tumor, fibromatosis, foot mass, infantile digital fibromatosis, pediatric extremity mass

Objective: Infantile digital fibromatosis is a rare benign childhood tumor, infrequently cited in the literature. Hallmarks include nodular growths exclusive to fingers and toes and the presence of eosinophilic cytoplasmic inclusions on histology. This article aims to exemplify diagnoses of infantile digital fibromatosis and possible treatment options. Methods: A computerized English literature search was performed in the PubMed/MEDLINE database using MeSH headings "infantile," "juvenile," "digital," and "fibromatosis." Twenty electronic publications were selected and their clinical and histological data recorded and used to compile a treatment algorithm. Results: A 9-month-old male child was referred for a persistent, symptomatic nodule on the third left toe. A direct excision with Brunner-type incisions was performed under general anesthesia. The procedure was successful without complications. The patient has no recurrence at 2 years postsurgery and continues to be followed. Histological examination revealed a proliferation of bland, uniformly plump spindle cells with elongated nuclei and small central nucleoli without paranuclear inclusions consistent with fibromatosis. Conclusions: Asymptomatic nodules should be observed for spontaneous regression or treated with nonsurgical techniques such as chemotherapeutic or steroid injection. Surgical removal should be reserved for cases with structural or functional compromise.
A patient with an ectopic sphenoid bone TSH secretory adenoma: Case report and review of the literature
Authors: Shejil Kumar, Cun An Phang, Huajing Ni, Terrence Diamond
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: tshoma, ectopic tshoma, ectopic thyrotropin (tsh) secreting pituitary adenoma, thyroid-stimulating hormone, thyrotoxicosis, thyrotropinoma
MeSH terms: Adenoma / complications, Adenoma / diagnostic imaging, Adenoma / surgery, Goiter / complications, Pituitary Neoplasms / complications, Pituitary Neoplasms / diagnostic imaging, Pituitary Neoplasms / surgery, Thyroid Neoplasms / complications, Thyrotoxicosis / complications, Case Reports, Review, Aged, Delayed Diagnosis, Female, Humans, Sphenoid Bone, Thyroid Cancer, Papillary / complications, Thyrotropin, Thyrotropin

Ectopic thyroid-stimulating hormone (TSH)oma located outside the sella turcica is exceedingly rare and can be associated with significant diagnostic delay. The clinical presentation depends on the anatomical location and size of the ectopic tumor and the degree of thyrotoxicosis. A 71-year-old woman presented with goiter and thyrotoxicosis. Initial investigations revealed elevated free thyroxine (fT4) and tri-iodothyronine (fT3) with inappropriately high-normal TSH. Assay interference was unlikely, pituitary magnetic resonance imaging (MRI) scan was reported as "normal," and germline sequencing was negative for thyroid hormone receptor ß pathogenic variants. One year later, total thyroidectomy for enlarging symptomatic goiter and suspicious nodule revealed multifocal microscopic papillary thyroid carcinoma. Six years later, she presented to an ear, nose, and throat surgeon with nasal congestion, and a sphenoid bone mass was discovered on nasoendoscopy and imaging. Ectopic TSHoma was confirmed on surgical resection, and a review of the initial pituitary MRI scan revealed the mass which had initially been missed. This is the first reported case of an ectopic TSHoma located in the sphenoid bone. Ectopic TSHoma should be considered in patients with inappropriate TSH secretion when more common differentials are excluded including thyroid hormone resistance or pituitary TSHoma.
Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma
Authors: Luigia Cinque, Flavia Pugliese, Celeste Clemente, Stefano Castellana, Maria Pia Leone, Danilo de Martino, Teresa Balsamo, Claudia Battista, Tommaso Biagini, Paolo Graziano, Marco Castori, Alfredo Scillitani, Vito Guarnieri
Journal: Int J Endocrinol (2020)

Objective:
Atypical parathyroid adenoma is a rare neoplasm, showing atypical histological features intermediate between classic benign adenoma and the rarest parathyroid carcinoma, whose the clinical behaviour and outcome is not yet understood or predictable. Up to date only two cases of atypical adenoma were found associated to a MEN1 syndrome, and only one was proved to carry a pathogenic variant of the MEN1 gene.
Design:
We report the clinical, histologic, and molecular findings of a 44-year-old woman, presenting with a histologically proved atypical parathyroid adenoma with an apparent aggressive behaviour.
Methods and results:
CDC73 gene was screened at germline and somatic levels with no results. Whole exome sequencing performed on DNA extracted from blood leukocytes and tumour tissue revealed a somatic MEN1 gene heterozygous variant, c.912+1G > A, of the splicing donor site of exon 6. On immunohistochemistry, downregulation of the menin protein expression in the neoplastic cells was also observed.
Conclusions:
We report the second case of a rare association of a somatic MEN1 gene mutation in a patient with atypical parathyroid adenoma. We suggest that MEN1 gene could be an underestimate genetic determinant of these rare histological entities, and we highlight the utility of a complete genetic screening protocol, by the use of next-generation sequencing technology in such undetermined clinical cases with no frank clinical presentation.
Intestinal ischemia due to methamphetamine use: A case report
Authors: Kihoon Choi, Andrew Imrie, Rohan Lourie, Trent Cross
Journal: Int J Surg Case Rep (2019)
Keywords: case report, intestinal gangrene, intestinal ischemia, methamphetamine

Introduction:
Methamphetamine use is a rare cause of intestinal ischemia but is of clinical significance due to its high morbidity and mortality. Knowledge of methamphetamine-induced intestinal ischemia has been limited to few case reports.
Case presentation:
We describe the case of a 48-year-old man who presented with ischemic bowel related to methamphetamine use. With concern for intestinal infarction the patient was taken to the operating room for emergency laparotomy, which found a segmental gangrene of small bowel and colon. The patient subsequently underwent right hemicolectomy and small bowel resection for damage control, followed by second-look laparotomy and anastomosis. The patient recovered well from the surgery and was discharged without complications.
Conclusion:
This case report alerts surgeons to have a high index of suspicion for intestinal ischemia in methamphetamine users who present with acute abdominal pain.
Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants
Authors: De Wu, Liwei Fang, Ting Huang, Songcheng Ying
Journal: Front Pediatr (2021)
Keywords: aicardi-goutières syndrome, trex1, case report, mutations, type i interferons
MeSH terms: Case Reports

TREX1 (three prime repair exonuclease 1) gene encodes DNA 3' end repair exonuclease that plays an important role in DNA repair. Mutations in TREX1 gene have been identified as the cause of a rare autoimmune neurological disease, Aicardi-Goutières syndrome (AGS). Here, we report an AGS case of a 6-month-old Chinese girl with novel TREX1 variants. The patient had mild rashes on the face and legs, increased muscle tensions in the limbs, and positive cervical correction reflex. Cranial magnetic resonance imaging showed that there were patches of slightly longer T1 and T2 signals in the bilateral cerebral hemisphere and brainstem white matter, mainly in the frontotemporal lobe, together with decreased white matter volume, enlarged ventricles, and widened sulcus fissure. Total exon sequencing showed that the TREX1 gene of the child had mutations of c.137_138insC and c.292_293insA, which had not been reported before. In addition, elevated type I interferons were detected by using enzyme-linked immunosorbent assay in the patient's serum. Together, our study demonstrated that novel TREX1 variants (c.137_138insC and c.292_293insA) cause AGS for the first time.
Overlap of psoriasiform and primary syphilis: an atypical manifestation of secondary syphilis (a case report)
Authors: Rizki Amelia Noviyanthi, Ivan Kurniadi, Muji Iswanty, Safruddin Amin, Anni Adriani, Muhlis
Journal: Pan Afr Med J (2022)
Keywords: hiv, overlap, case report, psoriasiform, syphilis
MeSH terms: Syphilis / diagnosis, Syphilis / drug therapy, Case Reports, Adult, Humans, Male, Penicillin G Benzathine / therapeutic use, Treponema pallidum, Penicillin G Benzathine, Syphilis, primary, Syphilis, secondary

Syphilis is a sexually transmitted infection caused by the bacterium Treponema pallidum (T. pallidum) with an increasing incidence in recent years. Secondary syphilis is called 'the great imitator' due to its various clinical presentations. Psoriasiform syphilis is an atypical presentation of secondary syphilis. The coinfection of syphilis with HIV has been linked to more severe clinical presentations increased risk of neurosyphilis, decreased CD4+ count, and an interesting phenomenon of overlapping primary and secondary syphilis. A 35-year-old male presented with generalized thick, scaly erythematous plaques, including the soles of the palms and feet, diffuse alopecia on the scalp and eyebrows, and multiple painless ulcers on the penis. The venereal disease research laboratory and Treponema pallidum hemagglutination assay examination showed positive results and the patient was treated with an intramuscular injection of 2.4 million units of Benzathine penicillin G. At the seventh-day follow-up, the patient showed significant clinical improvement marked by plaque thinning and reduced erythema. This case emphasizes that secondary syphilis may present with varied clinical presentations which can be further affected with HIV coinfection. Detailed history taking, physical examination, and a high level of suspicion are crucial in recognizing and establishing the right diagnosis.