OpenMed/multicare-articles huggingface dataset:
Lemierre's Syndrome Associated with Mechanical Ventilation and Profound Deafness
Authors: Lukas Birkner
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Lemierre's syndrome is a rare disorder that is characterized by anaerobic organisms inducing a thrombophlebitis of the internal jugular vein (IJV) following a course of oropharyngeal infection. It often occurs in young and healthy patients. Clinicians continuously misinterpret early symptoms until infection disseminates systematically and life-threatening sepsis transpires. We report the case of a 58-year-old female developing Lemierre's syndrome accompanied by invasive ventilation support and a profound deafness requiring the implementation of a cochlear implant. This is one of two reported cases of Lemierre's syndrome associated with mechanical ventilation support and the only case associated with a cochlear implant.
Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome
Authors: Riffat Mehboob, Maher Kurdi, Mursleen Ahmad, Syed Amir Gilani, Sidra Khalid, Hisham Nasief, Abeer Mirdad, Husam Malibary, Sahar Hakamy, Amber Hassan, Meshari Alaifan, Ahmed Bamaga, Syed Adnan Shahzad
Journal: Front Pediatr (2021)
Keywords: breathing control, cardiac channel genes, channelopathies, neuropathology, sodium channels, sudden infant death syndrome

Background: Sudden infant death syndrome (SIDS) is a tragic incident which remains a mystery even after post-mortem investigation and thorough researches. Methods: This comprehensive review is based on the genes reported in the molecular autopsy studies conducted on SIDS so far. A total of 20 original studies and 7 case reports were identified and included in this analysis. The genes identified in children or adults were not included. Most of the genes reported in these studies belonged to cardiac channel and cardiomyopathy. Cardiac channel genes in SIDS were scrutinized for further analysis. Results: After screening and removing the duplicates, 42 unique genes were extracted. When the location of these genes was assessed, it was observed that most of these belonged to Chromosomes 11, 1 and 3 in sequential manner. The pathway analysis shows that these genes are involved in the regulation of heart rate, action potential, cardiac muscle cell contraction and heart contraction. The protein-protein interaction network was also very big and highly interactive. SCN5A, CAV3, ALG10B, AKAP9 and many more were mainly found in these cases and were regulated by many transcription factors such as MYOG C2C1 and CBX3 HCT11. Micro RNA, "hsa-miR-133a-3p" was found to be prevalent in the targeted genes. Conclusions: Molecular and computational approaches are a step forward toward exploration of these sad demises. It is so far a new arena but seems promising to dig out the genetic cause of SIDS in the years to come.
Ruptured rudimentary horn pregnancy at 25 weeks with previous vaginal delivery: a case report
Authors: Deepa V Kanagal, Lokeshchandra C Hanumanalu
Journal: Case Rep Obstet Gynecol (2012)
MeSH terms: Case Reports

Unicornuate uterus with rudimentary horn occurs due to failure of complete development of one of the Mullerian ducts and incomplete fusion with the contralateral side. Pregnancy in a noncommunicating rudimentary horn is extremely rare and usually terminates in rupture during first or second trimester of pregnancy. Diagnosis of rudimentary horn pregnancy and its rupture in a woman with prior vaginal delivery is difficult. It can be missed in routine ultrasound scan and in majority of cases it is detected after rupture. It requires a high index of suspicion. We report a case of G2PlL1 with rupture rudimentary horn pregnancy at 25 weeks of gestation which was misdiagnosed as intrauterine pregnancy with fetal demise by ultrasound, and termination was attempted and the case was later referred to our hospital after the patient developed hemoperitoneum and shock with a diagnosis of rupture uterus. Laparotomy revealed rupture of right rudimentary horn pregnancy with massive hemoperitoneum. Timely laparotomy, excision of the horn, and blood transfusion saved the patient.
When good bacteria behave badly: a case report of Bacillus clausii sepsis in an immunocompetant adult
Authors: Isabella Princess, T Natarajan, Siddhartha Ghosh
Journal: Access Microbiol (2020)
Keywords: bacillus clausii, blood culture, probiotics, sepsis
MeSH terms: Case Reports

Reports of unusual microorganisms causing human infections are on the rise due to transitions in epidemiological trends. Commensal/normal flora which are otherwise termed as 'good bacteria' are now causing infections in different group of patients, mostly immunocompromised individuals. Various host and environmental factors play a pivotal role in microbial transmigration from their normal habitat into the blood and other body sites. We report one such 'good bacterium' associated with sepsis in a patient who was given the same bacterium in the form of probiotics.
Levofloxacin-Induced Acute Hyperpigmentation Changes in a Chronic Kidney Disease Patient
Authors: Shakuntala S Patil, Sachin M Patil, Ryan Campbell, Manisha Singh, Matthew Plotkin
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Medication-induced cutaneous hyperpigmentation has variable clinical presentations and is dependent on the specific drug involved. Most commonly, an attentive patient observes such changes early in the course; when missed by the patient, such changes are usually noted by an observant clinician. Clinical diagnosis can be challenging if the patient is on multiple medications because other causes must be excluded. This condition occurs via multiple mechanisms. Frequently, the pigmentary change is reversible with discontinuation of the drug. Causative medications include nonsteroidal; anti-inflammatory agents, antimalarials, antibiotics, psychotropics, amiodarone, and chemotherapeutic agents. The; antimicrobials responsible for hyperpigmentation are antimalarials, tetracyclines, tigecycline, dapsone, rifampicin, and antiretrovirals such as zidovudine. Sunlight exposure can worsen the pigmentation seen with some of the above antimicrobials (e.g., dapsone). Here, we describe an older adult white woman presenting with acute cutaneous; hyperpigmentation of the bilateral lower extremities while on levofloxacin therapy. Hyperpigmentation resolved after cessation of the agent. Our case highlights this unique acute presentation after only a few days of oral levofloxacin.
Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development
Authors: Maki Igarashi, Vu Chi Dung, Erina Suzuki, Shinobu Ida, Mariko Nakacho, Kazuhiko Nakabayashi, Kentaro Mizuno, Yutaro Hayashi, Kenjiro Kohri, Yoshiyuki Kojima, Tsutomu Ogata, Maki Fukami
Journal: PLoS One (2013)
MeSH terms: Disorder of Sex Development, 46,XY / genetics, Gene Rearrangement / genetics, Genome, Human / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Child, Preschool, Comparative Genomic Hybridization, Female, Heterozygote, Humans, Infant, Infant, Newborn, Male, Sequence Deletion

Background:
46,XY disorders of sex development (46,XY DSD) are genetically heterogeneous conditions. Recently, a few submicroscopic genomic rearrangements have been reported as novel genetic causes of 46,XY DSD.
Methodology/principal findings:
To clarify the role of cryptic rearrangements in the development of 46,XY DSD, we performed array-based comparative genomic hybridization analysis for 24 genetic males with genital abnormalities. Heterozygous submicroscopic deletions were identified in three cases (cases 1-3). A ∼8.5 Mb terminal deletion at 9p24.1-24.3 was detected in case 1 that presented with complete female-type external genitalia and mental retardation; a ∼2.0 Mb interstitial deletion at 20p13 was identified in case 2 with ambiguous external genitalia and short stature; and a ∼18.0 Mb interstitial deletion at 2q31.1-32 was found in case 3 with ambiguous external genitalia, mental retardation and multiple anomalies. The genital abnormalities of case 1 could be ascribed to gonadal dysgenesis caused by haploinsufficiency of DMRT1, while those of case 3 were possibly associated with perturbed organogenesis due to a deletion of the HOXD cluster. The deletion in case 2 affected 36 genes, none of which have been previously implicated in sex development.
Conclusions/significance:
The results indicate that cryptic genomic rearrangements constitute an important part of the molecular bases of 46,XY DSD and that submicroscopic deletions can lead to various types of 46,XY DSD that occur as components of contiguous gene deletion syndromes. Most importantly, our data provide a novel candidate locus for 46,XY DSD at 20p13.
Metabolic engineering of cucurbitacins in Cucurbita pepo hairy roots
Authors: Aldo Almeida, Lemeng Dong, Theis H Thorsen, Morten H Raadam, Bekzod Khakimov, Natalia Carreno-Quintero, Sotirios C Kampranis, Søren Bak
Journal: Front Plant Sci (2022)
Keywords: acyl transferase, cucumis sativus, cucurbita pepo, ecballium elaterium, iberis amara, p450, rhizobium rhizogenes, triterpenoids

In this paper we show that metabolic engineering in Cucurbita pepo hairy roots can be used to both effectively increase and modify cucurbitacins. Cucurbitacins are highly-oxygenated triterpenoids originally described in the Cucurbitaceae family, but have since been found in 15 taxonomically distant plant families. Cucurbitacin B, D, E and I are the most widespread amongst the Cucurbitaceae and they have both important biological and pharmacological activities. In this study C. pepo hairy roots were used as a platform to boost production and alter the structures of the afore mentioned cucurbitacins by metabolic engineering to potentially provide new or more desirable bioactivities. We report that the ability to induce cucurbitacin biosynthesis by basic Helix-Loop-Helix transcription factors is partially conserved within the Cucurbitaceae and therefore can potentially be used as a biotechnological tool to increase cucurbitacins in several genera of this family. Additionally, overexpression of a novel acyltransferase from cucurbitacin producing Iberis amara generates a hitherto undescribed acetylation at the C3-hydroxyl group of the cucurbitadienol backbone. While overexpression of the cytochromes P450 CsCYP88L2 and McCYP88L7 from Cucumis sativus and Momordica charantia (respectively), results in accumulation of new spectral feature as revealed by High resolution liquid chromatography mass spectroscopy analysis; the m/z of the new peak supports it might be a cucurbitacin hydroxylated at the C19 position in C. pepo hairy roots. Finally, this paper is a case study of how hairy roots can be used to metabolically engineer and introduce novel modifications in metabolic pathways that have not been fully elucidated.
Schizophrenia and Leigh syndrome, a simple comorbidity or the same etiopathogeny: about a case
Authors: Leila Mnif, Rim Sellami, Jawaher Masmoudi
Journal: Pan Afr Med J (2015)
Keywords: leigh syndrome, psychiatric disorders, schizophrenia
MeSH terms: Leigh Disease / complications, Schizophrenia / complications, Case Reports, Humans, Leigh Disease / etiology, Male, Schizophrenia / etiology, Young Adult

Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency". Few psychiatric disorders have been defined that are associated with Leigh syndrome. The objective of this work is to study relations between mitochondrial dysfunction and psychiatric disorders. It was a 20 year old male patient, who received Modopar, for severe extra pyramidal symptoms caused by Leigh syndrome. He developed, four months ago, acute psychotic symptoms such as audio-visual hallucinations, persecution and mystic delirium. The cerebral MRI has shown signal abnormalities in central grey nucleus. The EEG recording and blood test were normal. The hypothesis of drug induced psychiatric disorders (Modopar) was possible. The evolution under atypical antipsychotic was only partial. In this case, the cerebrospinal fluid and lactate levels mean that mitochondria were not an overall explanation for these psychiatric disorders but may at least play a partial role. Psychiatric disorders may just be acomorbidity.
Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation
Authors: Paul Tuijnenburg, Eloy Cuadrado, Annet M Bosch, Angelika Kindermann, Machiel H Jansen, Marielle Alders, Ester M M van Leeuwen, Taco W Kuijpers
Journal: Front Pediatr (2017)
Keywords: foxp3, ipex syndrome, treg, wes, autoimmunity, immunodeficiency
MeSH terms: Case Reports

We describe here the case of a boy who presented with pulmonary infections, feeding difficulties due to velopharyngeal insufficiency and gastroesophageal reflux, myopathy, and hypotonia soon after birth. Later, he was also found to have an elevated immunoglobulin (Ig) E and mild eczema and was diagnosed with inflammatory bowel disease. Further immunological screening at the age of 7 years showed low B and NK cell numbers but normal CD4+ and CD8+ T cells and notably, normal numbers of CD4+ regulatory T (Treg) cells. Serum IgG, IgA, and IgM were low to normal, but he had a deficient response to a pneumococcal polysaccharide vaccine and thus a humoral immunodeficiency. To our surprise, whole exome sequencing revealed a mutation in forkhead box protein 3 (FOXP3), encoding an essential transcription factor for the development and function of Treg cells. This classical mutation is associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Further in vitro studies indeed showed defective function of Treg cells despite normal FOXP3 protein expression and nuclear localization. The boy underwent hematopoietic stem cell transplantation at 11 years of age and despite the temporary development of diabetes while on prednisone is now doing much better, IgE levels have declined, and his fatigue has improved. This case illustrates that a classical pathogenic mutation in FOXP3 can lead to a clinical phenotype where the diagnosis of IPEX syndrome was never considered because of the lack of diabetes and the presence of only mild eczema, in addition to the normal Treg cell numbers and FOXP3 expression.
Pituitary macroadenoma presenting with pituitary apoplexy, acromegaly and secondary diabetes mellitus - a case report
Authors: Hudson Kamau Nganga, Reuben Paul Lubanga
Journal: Pan Afr Med J (2013)
Keywords: ct scan, mri, pitutary macroadenoma, acromegaly, diabetes mellitus
MeSH terms: Adenoma / diagnosis, Pituitary Apoplexy / etiology, Pituitary Neoplasms / diagnosis, Case Reports, Acromegaly / diagnosis, Acromegaly / etiology, Adenoma / complications, Adenoma / surgery, Adult, Diabetes Mellitus / diagnosis, Diabetes Mellitus / etiology, Female, Humans, Magnetic Resonance Imaging, Pituitary Apoplexy / diagnosis, Pituitary Neoplasms / complications, Pituitary Neoplasms / surgery, Tomography, X-Ray Computed, Vision Disorders / diagnosis, Vision Disorders / etiology, Visual Acuity

Pituitary adenomas are associated with significant morbidity. The usual symptoms on presentation are of endocrine dysfunction and mass effects. A 31-year-old African female presented with headache, irregular menses, blurring of vision in the right eye and complete loss of vision in the left eye for 1 year. She had coarse facial features, enlarged hands and feet. Her right eye had temporal hemianopia with decreased visual acuity and her left eye had no perception of light. Investigations revealed an elevated fasting blood sugar and an elevated prolactin and growth hormone level. A CT scan and MRI done showed a hemorrhagic pituitary macroadenoma. She was put on bromocriptine, ocreotide, analgesics and insulin. Thereafter, she underwent transphenoidal surgery, where near total resection of the tumor was achieved. Patient is doing well post-operatively. This case highlights the importance of the use of a high clinical index of suspicion and radiological findings in diagnosis.
Chronic myeloid leukemia with an e1a3 BCR-ABL fusion protein: transformation to lymphoid blast crisis
Authors: Jordi Martinez-Serra, Raquel Del Campo, Antonio Gutierrez, Jose Luis Antich, Magdalena Ginard, Maria A Durán, Leyre Bento, Teresa Ros, Juan C Amat, Carmen Vidal, Julio F Iglesias, Izabela Orlinska, Joan Besalduch
Journal: Biomark Res (2014)
Keywords: all, cml, bcr-abl, e1a3
MeSH terms: Case Reports

Chronic myelogenous leukemia (CML) results from the neoplastic transformation of a hematopoietic stem cell. CML is cytogenetically characterized by the presence of the Philadelphia chromosome (Ph'). Most patients with CML express e13a2 or e14a2 mRNAs that result from a rearrangement of the major breakpoint cluster regions (M-BCR) generating the 210-kDa (p210BCR-ABL) fusion proteins b2a2 or b3a2 respectively. The e1a3 CML-related atypical translocation has been reported with an indolent clinical course, low leukocyte count, long chronic phase even without treatment and good response to therapy. We report the case of a patient initially diagnosed as CML in chronic phase whose cells expressed the e1a3 variant. The patient readily responded to imatinib 400 mg with the achievement of a rapid complete cytogenetic response and the normalization of the blood count values, but after 5 months transformed into lymphoid blast crisis.
Wandering spleen torsion-use of contrast-enhanced ultrasound
Authors: Elisa Aguirre Pascual, Teresa Fontanilla, Íñigo Pérez, Beatriz Muñoz, Maria Soledad Carmona, Javier Minaya
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

We report a case of torsion of a wandering spleen in an 18-year-old male patient who presented with acute abdominal pain and left lower quadrant mass. The patient was initially misdiagnosed at another institution. The patient came to our hospital for further investigation. Contrast-enhanced ultrasound was performed and showed a solid hypoechoic avascular mass, which was all that remained of the spleen, located under the left kidney. Based on the ultrasound findings, CT scan and MRI of the abdomen were performed to confirm the suspicion of torsion of a wandering spleen. To the best of our knowledge, there are no case reports describing the use of contrast-enhanced ultrasound for diagnosing torsion of a wandering spleen.
A Complex Facial Trauma Case with Multiple Mandibular Fractures and Dentoalveolar Injuries
Authors: Yeliz Guven, Sevgi Zorlu, Abdulkadir Burak Cankaya, Oya Aktoren, Koray Gencay
Journal: Case Rep Dent (2015)

The principles of management of mandibular fractures differ in children when compared to adults and depend on the specific age-related status of the growing mandible and the developing dentition. This paper presents a case report with a complex facial trauma affecting the mandibular body and condyle region and dentoalveolar complex. Clinical examination revealed soft tissue injuries, limited mouth opening, lateral deviation of the mandible, an avulsed incisor, a subluxated incisor, and a fractured crown. CBCT examination revealed a nondisplaced fracture and an oblique greenstick fracture of the mandibular body and unilateral fracture of the condyle. Closed reduction technique was chosen to manage fractures of the mandible. Favorable healing outcomes on multiple fractures of the mandible throughout the 6-year follow-up period proved the success of the conservative treatment. This case report is important since it presents a variety of pathological sequelae to trauma within one case.
Anti-Hu-Associated Encephalomyelitis as a Presentation of Primary Extrapulmonary Small Cell Carcinoma of the Small Bowel: A Case Report
Authors: Vincent Trung H Ngo, Michael P Meyers, Kasim Qureshi, Muhammad Umar Farooq
Journal: Cureus (2023)
Keywords: anti-hu, case report, extrapulmonary small cell carcinoma, ki-67 expression, neuroendocrine carcinoma, neuroendocrine tumor, paraneoplastic encephalomyelitis, paraneoplastic syndrome, small cell carcinoma
MeSH terms: Case Reports

Small cell carcinoma (SCC) is a neuroendocrine tumor (NET) commonly found in the lung, known for rapid proliferation and early metastasis. Extrapulmonary small cell carcinomas (ESCC) are rare, with GI tract carcinomas exceedingly so. Due to the lack of clinical data on the treatment of ESCC, the standard regimen is the same as the SCC of the lung. Documented accounts of paraneoplastic encephalomyelitis associated with NETs are also uncommon. We present a patient who suffered from neurologic deficits before being diagnosed with paraneoplastic encephalomyelitis from a duodenal ESCC. The patient presented with ear pain and hematemesis. New symptoms arose after the resolution of initial symptoms, including shortness of breath and numbness. Autoimmune workup was positive for anti-Hu antibodies. A position emission tomography (PET) scan showed increased uptake in the duodenal region. Biopsy results from a duodenal ulcer revealed poorly differentiated neuroendocrine carcinoma with positive synaptophysin and strong positivity of Ki-67, consistent with ESCC. Numerous treatments, including platinum-based chemotherapy, yielded no neurologic improvement for the patient. This case details an atypical presentation of ESCC, which should be considered in patients suspected of paraneoplastic encephalomyelitis.
Anti-PD-1 immunotherapy combined with stereotactic body radiation therapy and GM-CSF for the treatment of advanced malignant PEComa: A case report
Authors: Yunfan Wang, Weiling Li, Xin Zuo, Ke Min, Yuehua Tang, Hong Chen, Weimin Wang, Yan Zhou
Journal: Front Oncol (2023)
Keywords: gm-csf, pd-l1, pecoma, immunotherapy, radiotherapy
MeSH terms: Case Reports

Background:
Perivascular epithelioid cell neoplasm (PEComa) is a rare mesenchymal tumour. Due to its low incidence, a standard treatment regimen for PEComa has not yet been established. Radiotherapy has a synergistic effect with PD-1 inhibitors and GM-CSF. We treated advanced malignant PEComa with a triple regimen of PD-1 inhibitor, SBRT and GM-CSF to provide better therapeutic effect.
Case presentation:
A 63-year-old woman was diagnosed with malignant PEComa after presenting with postmenopausal vaginal bleeding. Despite two surgeries, the neoplasm eventually metastasized throughout the body. We formulated triple therapy with SBRT, a PD-1 inhibitor, and GM-CSF for the patient. The patient's local symptoms were controlled at the radiotherapy site, and the lesions at the unirradiated sites were also relieved.
Conclusions:
For the first time, a triple regimen of PD-1 inhibitor, SBRT and GM-CSF was used in the treatment of malignant PEComa and achieved good efficacy. Considering the lack of prospective clinical studies in PEComa, we believe that this triple therapy is a good-quality regimen for advanced malignant PEComa.
Multiple brain infarctions and endomyocarditis in ANCA-negative eosinophilic granulomatosis with polyangiitis
Authors: Takumi Tashiro, Urara Fujiwara, Yuichi Kira, Chihiro Karashima, Norihisa Maeda
Journal: Heliyon (2023)
Keywords: antineutrophil cytoplasmic antibodies, endomyocarditis, eosinophilic granulomatosis with polyangiitis, multiple brain infarctions, vasculitis
MeSH terms: Case Reports

Eosinophilic granulomatosis with polyangiitis (EGPA) is a small vessel necrotizing vasculitis characterized by asthma and eosinophilia. Ischemic stroke is a rare complication of the disease. We herein report a case involving a 77-year-old woman with sinusitis who developed embolic stroke and splenic infarctions. Laboratory tests revealed hypereosinophilia and elevated troponin-T and N-terminal pro-brain natriuretic peptide. Antineutrophil cytoplasmic antibodies (ANCA) studies were negative. Skin biopsy showed infiltration of eosinophils into the arterial walls. These clinicopathological findings led to the diagnosis of EGPA. We also found the evidence of endomyocarditis as revealed by multimodality cardiac imaging. The patient underwent continuous immunosuppressive and anticoagulation therapy, and the infarctions did not recur. This report highlights the importance of histologically proven vasculitis with eosinophil infiltration and careful examination for cardiac involvement, especially in ANCA-negative patients.