OpenMed/multicare-articles huggingface dataset:
Myoepithelioma of the Nasal Septum: A Rare Case of Extrasalivary Gland Involvement
Authors: Gustavo Barreto da Cunha, Tatiane Costa Camurugy, Thiago Cavalcante Ribeiro, Nara Nunes Barbosa Costa, Amanda Canário Andrade Azevedo, Eriko Soares de Azevedo Vinhaes, Nilvano Alves de Andrade
Journal: Case Rep Otolaryngol (2017)
MeSH terms: Case Reports

Introduction. The myoepithelioma is a rare benign tumor, most frequently found in the salivary glands. The extrasalivary gland involvement is even rarer and few cases involving the nasal cavity have been reported in the literature. Case Report. MES, a 54-year-old woman, complaining of progressive nasal obstruction and mild epistaxis through the right nostril which had developed 1 year previously. Computed tomography scan showed tumor with heterogeneous contrast enhancement occupying the right nasal cavity, moving contralaterally in the nasal septum. Excisional biopsy was performed through endoscopic surgery of the mass that was inserted at the nasal septum. Pathological and immunohistochemical exams concluded myoepithelioma. Discussion. The main symptoms of nasal myoepitheliomas are nasal obstruction and epistaxis. Immunohistochemistry is necessary to confirm the diagnosis, typically positive for cytokeratin and S-100, calponin, smooth muscle actin, myosin, vimentin, glial fibrillary acidic protein (GFAP), and carcinoembryonic antigen. The main marker for myoepithelioma is the S-100 protein. In our case, it was positive for cytokeratin, S-100, calponin, actin smooth muscle, and GFAP. In all cases reported in the literature surgical treatment was performed and the recurrence was associated with incomplete tumor resection. Final Comments. The myoepithelioma is a rare differential diagnosis of nasal tumors and its treatment is the total lesion excision.
Hyperammonemic Encephalopathy in Multiple Myeloma: A Case Report
Authors: Ilma Vahora, Ezhil Panneerselvam, Abhizith Deoker
Journal: Cureus (2023)
Keywords: altered mental status, ammonia, cyclophosphamide, hyperammonemic encephalopathy, multiple myeloma
MeSH terms: Case Reports

Multiple myeloma (MM) typically presents as lytic bony lesions, hypercalcemia, anemia, and renal failure. Only a few cases of hyperammonemic encephalopathy (HE) attributed to multiple myeloma have been reported. We report a case of a 68-year-old Hispanic female diagnosed with multiple myeloma and presented with altered mental status and elevated ammonia levels found to have HE. The pathology behind HE is associated with higher ammonia levels produced by myeloma cell lines in the absence of liver disease. Due to the wide range of differentials for altered mental status (AMS), HE often gets missed and causes delayed treatment and the associated higher mortality. The primary treatment is chemotherapy. Lactulose and rifaximin must be initiated; however, it is ineffective if solely used. In our case, chemotherapy was not considered a treatment option in light of the patient's pancytopenia and infection. Our case is unique, as despite adequately treating other commonly suspected causes of AMS such as infection, there was no expected improvement in the patient's clinical status noticed, eventually leading to intubation due to worsening AMS. Given the patient's history of multiple myeloma, non-compliance with chemotherapy before presentation, and elevated ammonia levels raised suspicion for HE. Clinicians are encouraged to acquaint themselves with HE as a differential for patients presenting with MM flare and AMS, specifically when other potential causes of AMS are ruled out and addressed.
Isolated lichen planus of lip: Diagnosis and treatment monitoring using dermoscopy
Authors: Mahesh Mathur, Prakash Acharya, Alina Karki, Nisha Kc, Jyoti Shah, Ayush Jha
Journal: Clin Case Rep (2018)
Keywords: dermoscopy, lichen planus, mucoscopy, oral lichen planus, wickham striae
MeSH terms: Case Reports

Lichen planus (LP) of lip has chances of malignant transformation as it may be exposed to external trauma, smoking, and ultraviolet light. This case highlights the use of dermoscope as a quick noninvasive tool for the diagnosis of LP of lip and monitoring the response to treatment.
The outcomes of epiretinal membrane peeling in patients with foveal herniation
Authors: Abdullah Ozkaya, Gurkan Erdogan, Gokhan Demir
Journal: Int J Retina Vitreous (2018)
Keywords: epiretinal membrane, foveal herniation, vitrectomy

Background:
To evaluate the surgical outcomes of vitrectomy in patients with foveal herniation associated with epiretinal membrane (ERM).
Methods:
This was a retrospective case series. The patients who had a foveal herniation associated with ERM, underwent vitrectomy, and had a minimum follow-up period of 12 months were included. The visual and anatomical outcomes were assessed during the first 12 months of follow-up and at the last follow-up visit. The main outcome measure was the reorganization pattern of foveal pit at month 12.
Results:
Eleven eyes of 11 patients were included. The mean postoperative follow-up period was 14.8 ± 2.6 months. The foveal contour was completely restored in 5 eyes (45.5%), partially restored in 5 eyes (45.5%), and was not restored in 1 eye (9.1%) at postoperative month 12 follow-up visit. The mean preoperative best corrected visual acuity was 0.61 ± 0.16 LogMAR and increased to 0.49 ± 0.16 LogMAR at month 12 (p < 0.0001). The mean preoperative central retinal thickness was 476 ± 128 micrometers and decreased to 302 ± 70 micrometers at month 12 (p < 0.0001).
Conclusion:
The foveal contour was restored in 45.5% of the eyes and visual acuity was significantly increased by a mean of 1.2 LogMAR lines at month 12 in patients with foveal herniation associated with ERM.
Diffuse pulmonary small nodular and patchy infiltrates on chest X-ray with hemoptysis: TB or not TB?-a call for scale up of respiratory medicine services in African TB high burden countries: a case of idiopathic pulmonary hemosiderosis
Authors: Kerclin Danielle de Klerk, Steffen Bau, Gunar Günther
Journal: Pan Afr Med J (2018)
Keywords: pulmonary tuberculosis, idiopathic pulmonary haemo-siderosis, respiratory services
MeSH terms: Hemoptysis / etiology, Hemosiderosis / diagnosis, Lung Diseases / diagnosis, Pulmonary Alveoli / pathology, Tuberculosis, Pulmonary / diagnosis, Case Reports, Adrenal Cortex Hormones / administration & dosage, Anemia, Iron-Deficiency / diagnosis, Anemia, Iron-Deficiency / etiology, Biopsy, Child, Diagnosis, Differential, Hemorrhage / etiology, Humans, Male, Adrenal Cortex Hormones, idiopathic pulmonary hemosiderosis

Tuberculosis is still one of the most common respiratory diseases in Africa and worldwide and miliary tuberculosis is a regular manifestation of it. Idiopathic pulmonary hemosiderosis is a rare disease entity, presenting in children as well as adults. It is characterized by the triad of recurrent episodes of alveolar hemorrhage, presenting as hemoptysis, iron deficiency anemia and bilateral pulmonary infiltrates seen on chest X-ray. These symptoms and signs can easily be confused for other diseases i.e. miliary tuberculosis, delaying appropriate management. The etiology of idiopathic pulmonary hemosiderosis remains unclear. Diagnosis is established by lung biopsy, revealing hemosiderin laden macrophages in the alveoli. Treatment during an acute episode includes corticosteroids and/or immunosuppressive therapy, as well as supportive measures. Long-term follow-up is essential.
A young man with Guillain-Barré syndrome, with a stroke-like presentation and physical findings suggestive of cervical myelopathy
Authors: Maria Siddiqi, Sundus Sardar, Muhammad Ibrahim Alhatou
Journal: Qatar Med J (2023)
Keywords: guillain–barré syndrome, myelopathy, os odontoideum
MeSH terms: Case Reports

We describe the case of a 44-year-old gentleman with hypertension and asthma presenting to the emergency department after noticing right upper-extremity weakness upon awakening. Brain imaging did not reveal a stroke. Initial neurological examination pointed to cervical myelopathy with radiculopathy as well as possible underlying length-dependent peripheral neuropathy as there was right arm strength of 4/5 and there were brisker (3+) reflexes all over except at the right biceps reflex and both ankle reflexes. Cervical spine magnetic resonance imaging (MRI) showed myelomalacia at the C2 level and an os odontoideum (OO). Os odontoideum is a chronic condition that occurs due to the failure of the center of ossification of the dens to fuse with the body of C2. By the next day after a few hours of sustaining a fall, weakness progressed to quadriparesis, without a sensory level on examination, followed by urinary retention. This situation was attributed to a possible cervical cord contusion due to the fall in the presence of OO, with other possibilities being spinal cord hemorrhage, infarct and transverse myelitis. However, repeat scanning of the cervical spine (MRI) did not reveal any acute cord changes. The initial examination for common causes of peripheral neuropathy did not reveal any findings. Finally, the diagnosis of Guillain-Barré syndrome (GBS) was considered, and treatment was initiated with intravenous immunoglobulin. Cerebrospinal fluid analysis was normal. The diagnosis was confirmed using electromyography. Our patient's initial presentation of monoparesis and progression in an asymmetric descending manner was unusual for GBS. His initial presentation mimicked a stroke, and the later progression masqueraded as cervical myelopathy secondary to a chronic cervical cord lesion. The presence of a cervical cord lesion (upper motor neuron) concealed the expected areflexia in GBS. The presence of OO on spine imaging, absence of expected areflexia in GBS, and progression to paraparesis after the fall sidetracked the direction of the initial investigation and led to a relative delay in diagnosis. Nonetheless, appraising the diagnostic data in the clinical context led to an appropriate diagnosis. We emphasize the importance of reconciling the available clinical and diagnostic information to reach the correct diagnosis.
Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing
Authors: Xiaojing He, Qingya Ma, Qiaoli Zhang, Xutao Hong, Ming Qi, Yongkai Li, Xiaodong Li
Journal: Front Genet (2022)
Keywords: androgen receptor, complete androgen insensitivity syndrome, deep sequencing, reproductive chimerism, whole-exome sequencing
MeSH terms: Case Reports

Background: Androgen insensitivity syndrome (AIS) is an X-linked recessive hereditary disease caused due to a reduced or absent function of the androgen receptor (AR) protein encoded by the AR gene (OMIM-Gene# 313,700). Genetic testing is important in the diagnosis, clinical management, and prevention of AIS (MIM# 300,068). The AR (HGNC: 644) pathogenic variant detection rate ranges from 65% to 95% for patients with complete AIS (CAIS) and 40%-45% for patients with partial androgen insensitivity syndrome (PAIS). Identification of a pathogenic mutation in the AR confirms the diagnosis of AIS, especially in the milder forms that may have a phenotypic overlap with other disorders of sex development. Improvement of the molecular diagnostic rate of AIS is urgently required in clinical practice. We reported the results of the molecular diagnosis of a patient with CAIS who failed previously in either the traditional Sanger sequencing or next-generation sequencing (NGS). Using whole-exome sequencing (WES) combined with a special polymerase chain reaction (PCR) and deep sequencing, we successfully identified a pathogenic variant, a hemizygous mutation (c.1395-1396insGA), in the GC-enriched and unstable GCC repeat regions of the AR gene of the proband. Conclusion: The results may be advantageous for the improvement of the detection rate of AIS, as well as other inherited disorders whose disease-causing genes contain GC-enriched and unstable GCC repeat regions.
Complete genome analysis of a rare human G3P[9] rotavirus posing as an AU-1 like strain
Authors: Apiradee Theamboonlers, Ornwalan Maiklang, Thanunrat Thongmee, Thaweesak Chieochansin, Viboonsuk Vuthitanachot, Yong Poovorawan
Journal: Springerplus (2013)
Keywords: au-1 like strain, g3p[9], human rotavirus (hrv), uncommon strain
MeSH terms: Case Reports

Background:
We performed phylogenetic and sequence analysis by Basic Local Alignment Search Tool (BLAST) of a complete Human Rotavirus (HRV) genome isolated from a hospitalized child with acute gastroenteritis in Thailand.
Findings:
The results indicated an uncommon strain characterized by multiple re-assortments in the VP3, VP4, VP6, NSP1, NSP4 and NSP5 genes. The uncommon strain is genotype G3-P[9]-I3-R3-C3-M3-A3-N3-T3-E3-H6, which displays aspects of the AU-1, FRV-1 and corresponds to the feline/canine prototype G3P[9] strain.
Conclusions:
The results suggested that nearly all the eleven gene segments of G3P[9] RVA strain CU365 might have originated from feline/canine RVAs (Rotavirus A).
Practice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report
Authors: Debarshi Sanyal, Vidya Bhairi, Jayarama S Kadandale
Journal: Int J Mol Cell Med (2016)
Keywords: consanguinity, conventional cytogenetics, endogamy, familial translocations, inversion
MeSH terms: Case Reports

We present 2 cases of likely rare event. In case 1, 3(rd) degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. The same inv(6) being inherited in progeny but presented with low AMH (anti Mullerian hormone) and high level of FSH (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. In case 2, a couple was presented with 2(nd) degree consanguineous marriage and referred for 2 recurrent/ missed abortions. The amounts of shared genes are suggestive of more lethal genetic outcomes and inferred endogamy is a major driver to reproductive fiascoes, the ancestries of which are deeply tied at the meiotic level.
Diagnostic and Therapeutic Challenges of Catatonia in an Adolescent With High Functioning Autism Spectrum Disorder: A Case Report
Authors: Annalisa Traverso, Caterina Ancora, Silvia Zanato, Alessia Raffagnato, Michela Gatta
Journal: Front Psychiatry (2021)
Keywords: ect, adolescent psychiatry, autism spectrum disorder, catatonia, high functioning autism
MeSH terms: Case Reports

Catatonia is a psychomotor syndrome with specific clusters of speech, behavioral and motor features. Although potentially life-threatening, especially in its malignant form accompanied with autonomic dysregulation and medical complications, it is a treatable condition, when promptly identified. For a long time catatonia was considered a marker of schizophrenia, thus limiting the possibility of diagnosis and treatment. Due to growing awareness and studies on the subject, it is now known that catatonia can occur in the context of a number of diseases, including psychotic, affective and neurodevelopmental disorders. In recent years, there's been a renewed interest in the recognition and definition of catatonia in neurodevelopmental disorders, such as Autism Spectrum Disorder (ASD), where the differential diagnosis poses great challenges, given the considerable overlapping of signs and symptoms between the conditions. We present the case of a 15 year old boy with High Functioning ASD with a sudden onset of severe catatonic symptoms and the co-existence of psychotic symptoms, whose complex clinical course raises many questions on the differentiation and relation of said disorders.
Burkholderia cepacia Sepsis in a Previously Healthy Full-Term Infant
Authors: Carlos A Carmona Jr, Alberto Marante, Fatma Levent, Sarah Marsicek
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Burkholderia cepacia causes sepsis in neonates who are immunocompromised or exposed via nosocomial transmission. We report a case of B. cepacia sepsis in a previously healthy 5-week-old male originally treated for bacterial pneumonia per chest X-ray findings and 3 days of fevers. Regardless of appropriate antibiotics and an initial negative blood culture, he developed severe hypoglycemia, circulatory collapse with disseminated intravascular coagulopathy, and expired. A second blood culture taken following transfer to the intensive care unit resulted positive for B. cepacia postmortem. Review of the newborn screen and family history was otherwise normal. Subsequent postmortem autopsy showed multifocal bilateral pneumonia with necrotizing granulomatous and suppurative portions of lung tissue. Additionally, there was a prominent cavitary lesion 2.5 cm in the right lower lobe with branching and septate fungal hyphae. Stellate microabscesses with granulomas were present in the liver and spleen. These findings plus B. cepacia bacteremia are highly suggestive of an immunocompromised status. Review of the literature shows that its presence has been associated with chronic granulomatous disease. Therefore, in a persistently febrile infant not responding to antibiotics for common microbes causing community-acquired pneumonia, immunodeficiency workup should ensue in addition to respective testing for chronic granulomatous disease especially if B. cepacia culture-positive as it is strongly associated with neutrophil dysfunction.
Reduced quadriceps motor-evoked potentials in an individual with unilateral knee osteoarthritis: a case report
Authors: Michael A Hunt, Jeanie R Zabukovec, Sue Peters, Courtney L Pollock, Meghan A Linsdell, Lara A Boyd
Journal: Case Rep Rheumatol (2011)
MeSH terms: Case Reports

One male with unilateral osteoarthritis (OA) of the knee underwent testing of corticospinal (CS) excitability (as quantified from motor-evoked potentials (MEPs) in the rectus femoris (RF) using transcranial magnetic stimulation) and quadriceps muscle strength. Baseline data indicated reduced MEP amplitudes in the RF of the affected limb compared to the unaffected limb. Increases in RF MEP amplitudes from both limbs were observed immediately following a 30-minute exercise session focusing on muscle strengthening. Following an 8-week muscle strengthening intervention, the participant exhibited increased MEP amplitudes and muscle strength in the affected limb. These findings suggest that alterations in peripheral muscle function found in patients with knee OA may have an origin centrally within the motor cortex and that interlimb differences may be evident in those with unilateral disease. These findings also suggest that CS excitability may be improved following a muscle strengthening intervention.
A novel combination of an IgE mediated adult onset food allergy and a suspected mast cell activation syndrome presenting as anaphylaxis
Authors: Colin Barber, Chrystyna Kalicinsky
Journal: Allergy Asthma Clin Immunol (2016)
Keywords: adult onset food allergy, anaphylaxis, mast cell activation syndrome
MeSH terms: Case Reports

Background:
Adult onset food allergy is a rare, but increasingly recognized phenomenon. Mast cell activation syndromes present an ongoing diagnostic and classification challenge. The combination of the two has been rarely described in the literature.
Case presentation:
We present a case of a new onset, IgE mediated food allergy in combination with a mast cell activation syndrome in an elderly patient not known to have a history of atopy. He presented to a hospital with a first presentation of anaphylaxis manifesting profound hypotension following consumption of a stew consisting of fish and shellfish. He had a persistently elevated serum tryptase and demonstrated evidence of high titre serum specific IgE to shellfish. He responded well to histaminergic blockade.
Conclusions:
Given that mast cell activation syndromes pose an increased risk for recurrent, severe anaphylaxis and that secondary causes of mast cell activation syndromes are more prevalent with aging, this case highlights the importance of considering this entity when evaluating an elderly patient with a first presentation of anaphylaxis.
Short-term warfarin treatment for apical thrombus in a patient with Takotsubo cardiomyopathy
Authors: Abdullah Icli, Hakan Akilli, Mehmet Kayrak, Alpay Aribas, Kurtulus Ozdemir
Journal: Cardiovasc J Afr (2016)
MeSH terms: Anticoagulants / administration & dosage, Takotsubo Cardiomyopathy / complications, Thrombosis / complications, Thrombosis / drug therapy, Warfarin / administration & dosage, Case Reports, Coronary Angiography, Drug Administration Schedule, Echocardiography, Electrocardiography, Female, Humans, International Normalized Ratio, Middle Aged, Prothrombin Time, Takotsubo Cardiomyopathy / diagnostic imaging, Thrombosis / diagnostic imaging, Time Factors, Treatment Outcome, Anticoagulants, Warfarin

Takotsubo cardiomyopathy (TCMP) is characterised by a temporary aneurysm of the left ventricular apex in individuals without significant stenosis of the coronary arteries. It is extremely rare to see it combined with a thrombus. In this case report, we present a 57-year-old female patient with TCMP in whom apical thrombus was treated with short-term warfarin use.
Plotting of Ethylene Glycol Blood Concentrations Using Linear Regression before and during Hemodialysis in a Case of Intoxication and Pharmacokinetic Review
Authors: Youngho Kim
Journal: Case Rep Nephrol (2015)

Introduction. As blood concentration measurement of commonly abused alcohol is readily available, the equation was proposed in previous publication to predict the change of their concentration. The change of ethylene glycol (EG) concentrations was studied in a case of intoxication to estimate required time for hemodialysis (HD) using linear regression. Case Report. A 55-year-old female with past medical history of seizure disorder, bipolar disorder, and chronic pain was admitted due to severe agitation. The patient was noted to have metabolic acidosis with elevated anion gap and acute kidney injury, which prompted blood concentration measurement of commonly abused alcohol. Her initial EG concentration was 26.45 mmol/L. Fomepizole therapy was initiated, soon followed by HD to enhance clearance. Discussion. Plotting of natural logarithm of EG concentrations over time showed that EG elimination follows first-order kinetics and predicts the change of its concentration well. Pharmacokinetic review revealed minimal elimination of EG by alcohol dehydrogenase (ADH) which could be related to genetic predisposition for ADH activity and home medications as well as presence of propylene glycol. Pharmacokinetics of EG is relatively well studied with published parameters. Consideration and application of pharmacokinetics could assist in management of EG intoxication including HD planning.
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency
Authors: Mara Giordano, Valentina Muratore, Deepak Babu, Cristina Meazza, Mauro Bozzola
Journal: Mol Cytogenet (2016)
Keywords: 18p1131-p1123 microduplication, chorioretinal coloboma, deafness, growth hormone deficiency, hypoplasia of the cerebellar vermis
MeSH terms: Case Reports

Background:
Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5-431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy.
Case presentation:
In a 10 year-old boy with moderate psychomotor delay, hypoplasia of the cerebellar vermis, chorioretinal coloboma, deafness and growth hormone deficiency (GHD), an interstitial microduplication at 18p11.31-p11.23 was identified by array-CGH. This maternally inherited microduplication, encompasses three genes, namely ARHGAP28, LINC00668 and LAMA1 (a gene involved in cerebellum and retinal development).
Conclusions:
The genotype-phenotype is discussed with particular attention to the LAMA1 gene, although it is difficult, as in many other similar situations, to assess the causality of the detected duplication in the absence of further studies aiming to explore the presence of co-occurring variants that could explain the incomplete penetrance.