OpenMed/multicare-articles huggingface dataset:
Vitamin B12 deficiency presenting as progressive blindness in a 33-year-old HIV-positive female patient on Efavirenz-based regimen: case report
Authors: Gloria Lubega, Joseph Lutaakome, Moses Kibirige, Daniel Opoka, Immaculate Atukunda, Eugene Ruzagira
Journal: Pan Afr Med J (2024)
Keywords: hiv, case report, optic neuritis, vitamin b12 deficiency
MeSH terms: Alkynes, Anti-HIV Agents / administration & dosage, Anti-HIV Agents / adverse effects, Benzoxazines / administration & dosage, Benzoxazines / adverse effects, Blindness / etiology, Cyclopropanes / administration & dosage, HIV Infections / complications, HIV Infections / drug therapy, Optic Neuritis / diagnosis, Optic Neuritis / drug therapy, Vitamin B 12 Deficiency / complications, Vitamin B 12 Deficiency / diagnosis, Vitamin B 12 Deficiency / drug therapy, Vitamin B 12 / administration & dosage, Case Reports, Adult, Female, Glucocorticoids / administration & dosage, Humans, Prednisolone / administration & dosage, efavirenz, Vitamin B 12, Alkynes, Benzoxazines, Anti-HIV Agents, Cyclopropanes, Prednisolone, Glucocorticoids

Optic neuritis is a rare presentation of vitamin B12 deficiency. We describe a 33-year-old female patient living with HIV presenting with progressive loss of vision for 1 week. She had a history of severe peripheral neuropathy that was managed with vitamin B12-containing tablets approximately three years before presenting with progressive loss of vision. On examination, she had no perception of light in the left eye and no perception of hand motion in the right eye. The fundus in her left eye had mild blurring of disc margins. Results from tests done showed a haemoglobin of 12.9g/dl, MCV 101fl, a serum vitamin B12 of 78pmol/l, and cytomegalovirus (CMV) test showed no active disease. She was diagnosed with optic neuritis and started on 30 mg tablets of prednisolone for 1 week with slight improvement. She was then started on vitamin B12 injections 1 mg daily for 10 days and thereafter, monthly for 6 months. She reported gradual improvement and regained her sight after 5 months treatment of with Vitamin B12 injections. Ophthalmic manifestations of vitamin B12 deficiency are not common and may present without haematological signs therefore, a high index of suspicion is required for early diagnosis and management of vitamin B12 deficiency.
Favorable outcome of immunotherapy in a rare subtype of hepatocellular carcinoma: a case report and literature review
Authors: Anita Archwamety, Nique Kunapinun, Sirinart Sirinvaravong, Piyaporn Apisarnthanarak, Charuwan Akewanlop, Krittiya Korphaisarn
Journal: Front Oncol (2024)
Keywords: atezolizumab, bevacizumab, hepatocellular carcinoma (hcc), immune checkpoint inhibitor, immune related adverse event (irae), scirrhous hcc, scirrhous hepatocellular carcinoma, type 1 dm
MeSH terms: Case Reports

Scirrhous hepatocellular carcinoma (S-HCC) represents an uncommon subtype of HCC. During radiological evaluation this unique subtype is frequently mistaken as cholangiocarcinoma, fibrolamellar HCC, or metastatic adenocarcinoma. Here, we present the case of a 50-year-old woman with a large hepatic mass. A triple-phase computed tomography of the liver revealed an arterial enhancing lesion without portovenous washout at hepatic segment 4a/8. The liver biopsy showed hepatocellular characteristics and was positive for Hep Par 1, CK7, CK19, Arginase 1 and CEA, indicating atypical S-HCC. This patient had achieved tumor control with combined treatment with atezolizumab plus bevacizumab and was then treated with lenvatinib after tumor progression. The patient died 15 months after the initial diagnosis.
Case Report: The application of metagenomic next generation sequencing in diagnosing fungal malignant external otitis: a report of two cases
Authors: Qi Wang, Rui Hu, YiFan Zhu, WenQing Zhu, Hua Jiang
Journal: Front Cell Infect Microbiol (2023)
Keywords: aspergillus, case report, fungal malignant external otitis, metagenomic next-generation sequencing, voriconazole
MeSH terms: Otitis Externa / diagnosis, Case Reports, Antifungal Agents / therapeutic use, High-Throughput Nucleotide Sequencing, Humans, Metagenome, Metagenomics, Antifungal Agents

Background:
Most of malignant external otitis (MEO) cases reported in the literature are attributed to Pseudomonas aeruginosa. Fungal infections in MEO are also likely but extremely rare. And conventional microbiology tests is difficult to diagnose.
Case description:
Two patients were diagnosed with Fungal malignant external otitis (FMEO) due to Aspergillus by metagenomic Next-Generation Sequencing (mNGS) and recovered after comprehensive treatment including operation and voriconazole. The antifungal treatment was delayed due to repeated cultures of secretions being negative and pathological examination showed granulation tissue proliferation with extensive neutrophil infiltration.
Conclusion:
mNGS might be helpful for patients suspected with FMEO, especially when conventional microbiology tests were negative.
Understanding the bias of mobile location data across spatial scales and over time: A comprehensive analysis of SafeGraph data in the United States
Authors: Zhenlong Li, Huan Ning, Fengrui Jing, M Naser Lessani
Journal: PLoS One (2024)
MeSH terms: Income, Urbanization, Bias, Humans, Population Dynamics, Rural Population, United States

Mobile location data has emerged as a valuable data source for studying human mobility patterns in various contexts, including virus spreading, urban planning, and hazard evacuation. However, these data are often anonymized overviews derived from a panel of traced mobile devices, and the representativeness of these panels is not well documented. Without a clear understanding of the data representativeness, the interpretations of research based on mobile location data may be questionable. This article presents a comprehensive examination of the potential biases associated with mobile location data using SafeGraph Patterns data in the United States as a case study. The research rigorously scrutinizes and documents the bias from multiple dimensions, including spatial, temporal, urbanization, demographic, and socioeconomic, over a five-year period from 2018 to 2022 across diverse geographic levels, including state, county, census tract, and census block group. Our analysis of the SafeGraph Patterns dataset revealed an average sampling rate of 7.5% with notable temporal dynamics, geographic disparities, and urban-rural differences. The number of sampled devices was strongly correlated with the census population at the county level over the five years for both urban (r > 0.97) and rural counties (r > 0.91), but less so at the census tract and block group levels. We observed minor sampling biases among groups such as gender, age, and moderate-income, with biases typically ranging from -0.05 to +0.05. However, minority groups such as Hispanic populations, low-income households, and individuals with low levels of education generally exhibited higher levels of underrepresentation bias that varied over space, time, urbanization, and across geographic levels. These findings provide important insights for future studies that utilize SafeGraph data or other mobile location datasets, highlighting the need to thoroughly evaluate the spatiotemporal dynamics of the bias across spatial scales when employing such data sources.
Imaging findings of Budd-Chiari syndrome caused by intravenous leiomyomatosis: a case report
Authors: Yahong Wang, Yifan Dong, Xueyu Tian, Yu Chen, Xiao Yang, Jianchu Li
Journal: Front Med (Lausanne) (2024)
Keywords: budd-chiari syndrome, case report, computed tomography, imaging, intravenous leiomyomatosis, ultrasonography
MeSH terms: Case Reports

Intravenous leiomyomatosis (IVL) is a rare gynecological-related tumor. It can invade and extend in the blood vessel and eventually involve the cardiac cavity or even the pulmonary artery. IVL generally does not adhere to the vein wall and infrequently leads to the manifestation of Budd-Chiari syndrome (BCS). In this case report, the presence of a sizable tumor obstructed the second hepatic portal, impeding the return flow of the hepatic veins, thereby precipitating the development of BCS. The presence of collateral veins and dilation of the accessory hepatic vein were identified through computed tomography venography and ultrasonography, thus supporting the diagnosis of BCS. The patient underwent a comprehensive surgical resection and was found to have a favorable prognosis.
Bowel Obstruction From Biliary Stent Migration: An Unusual Case of Abdominal Pain
Authors: Brian G Nudelman, Marianne Cortes, Raphael Khella, Antony George, Camilo Ruiz
Journal: Cureus (2024)
Keywords: biliary, cholecystitis, common bile duct, endoscopic, ercp, gastroenterology, gi, mrcp, sbo, stent
MeSH terms: Case Reports

Endoscopic biliary stent placement is an important procedure that is commonly done in patients with malignant obstruction of the biliary tree. However, it can also be done to relieve non-maligant obstructions short term until more curative surgical interventions can be performed. There are two main types of stents used for these procedures: self-expanding metal stents (SEMSs) and plastic stents. Each of these stent types has different indications, and determining the correct stent for each individual patient is important. Here, we present a case of a 73-year-old female who presented with abdominal pain due to small bowel obstruction caused by a dislodged biliary duct stent. We hope to promote more focus on selecting the right stent type for each patient and encouraging follow-up visits after placement, especially for those with a history of medical noncompliance.
Three cases of African tick bite fever diagnosed in Quebec City: A case series
Authors: Nicolas Caudrelier, Marie-Claude Dionne
Journal: SAGE Open Med Case Rep (2024)
Keywords: african tick bite fever, rickettsiosis, spotted fever
MeSH terms: Case Reports

African tick bite fever is a rickettsiosis of the spotted fever group that is endemic to sub-Saharan Africa and the Caribbean. It is characterized by eschars at the inoculation sites and a maculopapular rash which may be purpuric. We describe three cases that were diagnosed in Quebec City.
Case report: A rare combination of aldosterone-secreting adrenocortical carcinoma and papillary thyroid carcinoma with Graves' disease
Authors: Yuhai Zhang, Jingwen Yu, Cunxia Fan, Fei Wang, Haiwei Liu, Kaining Chen
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: graves’ disease, adrenocortical carcinoma, aldosterone, exome sequencing, papillary thyroid carcinoma
MeSH terms: Adrenal Cortex Neoplasms / complications, Adrenal Cortex Neoplasms / metabolism, Adrenal Cortex Neoplasms / pathology, Adrenocortical Carcinoma / metabolism, Adrenocortical Carcinoma / pathology, Aldosterone / metabolism, Graves Disease / complications, Graves Disease / metabolism, Graves Disease / pathology, Thyroid Cancer, Papillary / genetics, Thyroid Cancer, Papillary / metabolism, Thyroid Cancer, Papillary / pathology, Thyroid Neoplasms / metabolism, Thyroid Neoplasms / pathology, Case Reports, Research Support, Non-U.S. Gov't, Adrenalectomy, Fatal Outcome, Female, Humans, Middle Aged, Aldosterone

Adrenocortical carcinoma (ACC) is a rare malignancy originating in the adrenal glands, aldosterone-producing ACC, even rarer. Papillary thyroid carcinoma (PTC), by contrast, accounts for the majority of thyroid carcinomas. We herein describe the first reported case of a female with comorbidities of aldosterone-producing ACC, PTC, and Graves' Disease(GD). The patient achieved transient clinical remission following adrenalectomy. However, three months later, aldosterone-producing ACC lung metastases emerged. Subsequently, within another three-month interval, she developed thyroid eye disease(TED). The patient died roughly one year after the adrenal operation. Exome sequencing did not reveal associations between aldosterone-producing ACC, PTC, and GD, and the underlying concurrence mechanism has yet to be elucidated. Further research of similar cases are needed to confirm potential links between the three pathologies.
Interstitial Ectopic Pregnancy Associated With Painless and Severe Vaginal Bleeding: A Rare, Atypical Clinical Presentation
Authors: Anna Thanasa, Efthymia Thanasa, Vasiliki Grapsidi, Ioannis-Rafail Antoniou, Ektoras-Evangelos Gerokostas, Evangelos Kamaretsos, Athanasios Chasiotis, Ioannis Thanasas
Journal: Cureus (2024)
Keywords: case report, chorionic gonadotropin hormone, doppler ultrasound, interstitial ectopic pregnancy, magnetic resonance imaging, medical treatment, surgical treatment, transvaginal ultrasound
MeSH terms: Case Reports

Interstitial ectopic pregnancy is rare (2%-4% of ectopic pregnancies). The atypical clinical presentation of interstitial ectopic pregnancy associated with massive vaginal bleeding is extremely rare and makes early preoperative diagnosis even more difficult. The presentation of our case concerns the early diagnosis and surgical treatment of a patient with an interstitial ectopic pregnancy without rupture, which presented atypically with painless, severe vaginal bleeding. A 27-year-old fourth-term pregnant woman presented with massive painless vaginal bleeding. Secondary amenorrhea was calculated at eight weeks and four days. Transvaginal ultrasound and transvaginal Doppler ultrasound combined with the quantification of beta-chorionic gonadotropin hormone raised the suspicion of interstitial ectopic pregnancy. Intraoperatively, the presence of a large swelling of the right horn of the uterus was established, and a wedge resection was performed with the removal of the corresponding fallopian tube. Three weeks after surgery, the serum beta-chorionic gonadotropin hormone value was zero. In this paper, the rarity of interstitial ectopic pregnancy, the difficulties related to early and correct preoperative diagnosis, and the selection of the appropriate available therapeutic procedures are emphasized, the correct application of which can significantly contribute to reducing the morbidity and mortality of these patients.
Spontaneous Massive Retinal Pigment Epithelium Tear: A Case Report of a Dramatic Complication of Age-Related Macular Degeneration
Authors: Renato Correia Barbosa, Carla Teixeira
Journal: Cureus (2024)
Keywords: age-related macular degeneration (amd), anti-vegf treatment, retinal hemorrhage, retinal pigment epithelium (rpe), retinal pigment epithelium tear
MeSH terms: Case Reports

Retinal pigment epithelium (RPE) tears occur when the RPE acutely breaks and retracts, leaving the underlying Bruch's membrane and choroid exposed. They usually happen in areas of previous pigment epithelial detachments and are generally associated with age-related macular degeneration (AMD). The purpose of this report is to describe a case of a spontaneous massive central RPE tear in a patient with untreated AMD. A 67-year-old female patient presented with complaints of sudden decreased vision in her right eye. Her best-corrected visual acuity was 2/20, and fundoscopy revealed a massive central retinal hemorrhage with intraretinal, subretinal, and sub-RPE blood. The patient started anti-vascular endothelial growth factor (VEGF) treatment, and after the blood was reabsorbed, a very large central tear of the RPE involving the central macula was evident, with a layer of detached retina folded on itself. She received continuous anti-VEGF therapy, and the final measurement of her visual acuity was 2/200, despite the complete reabsorption of the hemorrhage. RPE tears may occur spontaneously as part of the natural history of AMD or be triggered by the initiation of anti-VEGF treatment in the presence of large pigment epithelium detachments. There are currently no strategies to prevent their spontaneous development, and they constitute a dramatic complication of AMD. The prognosis is dependent on the size and location of the lesion, and the visual loss is irreversible.
Case report: A case of anti-glycine receptor encephalomyelitis triggered by post-transplant or COVID-19 infection?
Authors: Zhengxue Zhang, Xiang Zhang, Mingming Dai, Yingying Wu, Yong You
Journal: Front Neurol (2024)
Keywords: covid-19 infection, anti-glycine receptor encephalomyelitis, magnetic resonance imaging, post-transplant, treatment outcome
MeSH terms: Case Reports

Even though long-term immunosuppressant drugs (ISD) are employed to inhibit immune system activity, enhancing graft functionality and patient survival in solid organ transplantation (SOT), these transplants often lead to immune complications, with post-transplant autoimmune diseases of the central nervous system (CNS) being uncommon. Here, we detail the case of a 66-year-old woman who underwent a renal transplantation 8 months prior, who was admitted with subacute onset of encephalomyelitis, accompanied by headaches, paraplegia, weakness, vomiting, and abdominal pain, with a positive COVID-19 nasopharyngeal swab test 1 month before admission. MRI scans of the brain revealed multiple lesions in the white matter of the bilateral deep frontal lobe, the left temporal lobe and insula lobe. Additionally, there were multiple short segment lesions in the spinal cord and subdural hematoma at T1, T6-T7 posterior. The serum revealed a positive result for GlyR-IgG. Following the administration of corticosteroid and intravenous immunoglobulin, there was a significant improvement in the patient's symptoms within 2 weeks, and her brain MRI showed a reduction in the lesion. Despite its rarity, we believe this to be the inaugural documentation of anti-GlyR encephalomyelitis occurring during renal transplantation. A full panel of antibodies for autoimmune encephalomyelitis is the key leading to the diagnosis.
Acute Myeloid Leukemia Presenting as Common Colds: An Uncommon Consideration
Authors: Thomas F Fusillo, Scott Millman, Kamal Menghrajani
Journal: Cureus (2024)
Keywords: acute myeloid leukemia (aml), bone marrow, common colds, cytarabine, hematopoietic stem cell transplant, leukemia, oncology
MeSH terms: Case Reports

Acute myeloid leukemia is the most common form of leukemia and can present with a wide variety of signs and symptoms. This article presents a case of a middle-aged male who presented with ongoing upper respiratory cold-like symptoms and was then found to be severely pancytopenic. A diagnosis of acute myeloid leukemia was made after a bone marrow biopsy, and the patient underwent induction chemotherapy. This article brings to light the uncommon diagnosis of acute myeloid leukemia, from a common presentation, a common cold. Additionally, it discusses the initial workup and diagnostic process of acute myeloid leukemia, risk stratification, and a basic treatment algorithm.
X-linked severe combined immunodeficiency complicated by disseminated bacillus Calmette-Guérin disease caused by a novel pathogenic mutation in exon 3 of the IL2RG gene: a case report and literature review
Authors: Chunxue Jiang, Yunhan He, Xin Chen, Fei Xia, Feng Shi, Xuewen Xu, Tingting Sun, Kai You
Journal: Front Immunol (2024)
Keywords: x-linked severe combined immunodeficiency, case report, disseminated bacillus calmette-guérin disease, interleukin-2 receptor gamma-chain gene, systemic review
MeSH terms: Interleukin Receptor Common gamma Subunit / genetics, Tuberculosis / immunology, Tuberculosis / prevention & control, X-Linked Combined Immunodeficiency Diseases / complications, X-Linked Combined Immunodeficiency Diseases / diagnosis, X-Linked Combined Immunodeficiency Diseases / genetics, X-Linked Combined Immunodeficiency Diseases / immunology, Case Reports, Review, BCG Vaccine / administration & dosage, BCG Vaccine / adverse effects, BCG Vaccine / immunology, Exons, Humans, Infant, Male, Mutation, Mycobacterium bovis / immunology, Mycobacterium bovis / pathogenicity, BCG Vaccine, IL2RG protein, human, Interleukin Receptor Common gamma Subunit

X-linked severe combined immunodeficiency (X-SCID), caused by mutations in the gamma-chain gene of the interleukin-2 receptor (IL2RG), is a prevalent form of SCID characterized by recurrent and fatal opportunistic infections that occur early in life. The incidence of disseminated bacillus Calmette-Guérin (BCG) disease among children with SCID is much higher than in the general population. Here, we report the case of a 4-month-old male infant who presented with subcutaneous induration, fever, an unhealed BCG vaccination site, and hepatosplenomegaly. Metagenomic next-generation sequencing in blood, and the detection of gastric juice and skin nodule pus all confirmed the infection of Mycobacterium tuberculosis. Lymphocyte subset analysis confirmed the presence of T-B+NK immunodeficiency. Whole-exome and Sanger sequencing revealed a novel microdeletion insertion mutation (c.316_318delinsGTGAT p.Leu106ValfsTer42) in the IL2RG gene, resulting in a rare shift in the amino acid sequence of the coding protein. Consequently, the child was diagnosed with X-SCID caused by a novel mutation in IL2RG, complicated by systemic disseminated BCG disease. Despite receiving systemic anti-infection treatment and four days of hospitalization, the patient died three days after discharge. To the best of our knowledge, this specific IL2RG mutation has not been previously reported. In our systemic review, we outline the efficacy of systemic anti-tuberculosis therapy, hematopoietic stem cell transplantation, and gene therapy in children with SCID and BCG diseases caused by IL2RG gene mutation.
Diffuse infantile hepatic hemangioma successfully treated with propranolol orally: a case report and literature review
Authors: Zengyan Li, Zhiming Wu, Youhong Dong, Xiaojun Yuan, Dongdong Zhang
Journal: Front Oncol (2024)
Keywords: diffuse infantile hepatic hemangioma, efficacy, infantile hepatic hemangioma, propranolol, safety
MeSH terms: Case Reports

Background:
Infantile hepatic hemangioma (IHH) is a common vascular, fast-growing hepatic tumor that is usually accompanied by multiple cutaneous hemangiomas. Diffuse IHH (DIHH) is a rare type of IHH that exhibits many tumors with nearly complete hepatic parenchymal replacement. At present, there is no specific standardized treatment plan for DIHH. Herein, we present the case of a 2-month-old girl with DIHH and without cutaneous hemangioma who achieved complete remission after undergoing propranolol monotherapy.
Case presentation:
The infant with low birth weight was presented to the pediatric department with a 2-month history of persistent vomiting and feeding difficulty. Ultrasonography and abdominal magnetic resonance imaging revealed hepatomegaly and diffused intrahepatic lesions. A computed tomography-guided percutaneous liver biopsy was performed, and the pathological examination suggested the diagnosis was DIHH. The patient exhibited remarkably response to an increasing dose of oral propranolol, from 0.5 mg/kg to 2 mg/kg every day. The intrahepatic lesions were almost completely regressed after one year of treatment and no distinct adverse reaction was observed.
Conclusion:
DIHH can induce life-threatening complications that require prompt interventions. Propranolol monotherapy can be an effective and safe first-line treatment strategy for DIHH.