OpenMed/multicare-articles huggingface dataset:
Anatomical and functional correlation in Susac syndrome: multimodal imaging assessment
Authors: Alexandre G B Azevedo, Luiz H Lima, Léo Müller, Flávio Rezende Filho, Cláudio Zett, André Maia, Luiz Roisman
Journal: Int J Retina Vitreous (2017)
Keywords: microperimetry, optical coherence tomography angiography, retinal artery occlusion, susac syndrome, visual field testing
MeSH terms: Case Reports

Background:
Susac's syndrome (SuS) is an uncommon disease characterized by retinal microangiopathy that may be assessed more accurately with optical coherence tomography angiography (OCTA), a new imaging technique which provides a retinal microvasculature map. The purpose of this case report is to describe the multimodal imaging findings of SuS correlating OCTA with functional tests.
Case presentation:
Retrospective review of one case with clinical and imaging evidence of SuS. Color fundus photograph, fluorescein angiography (FA), OCTA, microperimetry (MP) and visual field (VF) tests were analyzed at the time of presentation and at 1- and 6-month visit following initiation of treatment. The study patient underwent standard treatment for SuS. The patient age was 31 year-old and the baseline visual acuity was 20/60 and 20/20 in the right and left eyes, respectively. At presentation, FA showed branch retinal arterial occlusion within the macular area of the right eye and vascular leakage in the periphery of the left eye. OCTA demonstrated areas of superficial and deep retinal vascular plexuses hypoperfusion in both eyes. The OCTA segmentations in the outer retina and choriocapillaris were normal. The low VF and MP sensitivity signals precisely corresponded to the topography of decreased vascular perfusion seen on the OCTA density map in both eyes. Six months after specific SuS therapy, retinal vascular perfusion showed partial improvement in both eyes.
Conclusion:
OCTA may demonstrate superficial and deep retinal vascular non-perfusion without choriocapillary vasculature changes in SuS. This anatomical information given by OCTA corresponded to points of low sensitivity on functional tests represented by VF and MP.
Tophaceous Gout in the Pancreas: Case Reports and Review of the Literature
Authors: Soo Choi, Natalie Voskanian, Jeffrey Ramos, Katherine H Y Nguyen
Journal: Case Rep Rheumatol (2022)
MeSH terms: Case Reports

We report 3 patients who presented with abnormal pancreatic contents that were initially nondiagnostic but were eventually found to have urate crystal deposition consistent with pancreatic tophaceous gout. Our first case involved an ICU patient who had fever of unknown origin and refractory pancreatic pseudocyst. The other 2 patients presented with abdominal pain associated with a pancreatic mass which mimicked malignancy. After further investigation, we were able to identify pancreatic tophaceous gout as the diagnosis. Initiation of therapy led to resolution of pancreatitis in the first patient and resolution of abdominal pain and decrease in size of a pancreatic mass in the other 2 patients. The recognition of clinical gout involving the pancreas has important implications in the evaluation and care of these patients who are at high risk for tophaceous gout. In addition, the importance of specimen preparation that preserves crystals for viewing is discussed.
Maternal use of a combination of recreational and antiretroviral drugs (nyaope/whoonga): Case reports of their effects on the respiratory system in infants
Authors: C P Mashiloane, P H Jeena, S A Thula, S A Singh, R Masekela
Journal: Afr J Thorac Crit Care Med (2021)
Keywords: illicit drugs, airway obstruction, maternal drug use, nyaope, respiratory adverse effects, whoonga
MeSH terms: Case Reports

Nyaope/whoonga is an indigenous street drug in South Africa (SA). It is made from a combination of neuro-stimulatory illicit drugs such as antiretroviral drugs, heroin, cannabis, opioids, cocaine as well as common household powders such as flat-screen television glass powder. It is a very addictive substance and is used even during pregnancy. Its effects on the developing fetus have been described as causing neonatal abstinence syndrome (NAS), intrauterine growth restriction (IUGR) and neurological complications. There are no data in the literature that report its effect on the respiratory system (RS) of the fetus or neonates. We describe two children who were prenatally exposed to nyaope and presented with upper and lower respiratory tract obstructions associated with recurrent pneumonias. Further studies are required to describe the adverse effects of whoonga on the developing RS of prenatally exposed fetuses.
First Report of Gallbladder Volvulus Managed with a Robotic Approach
Authors: Roberto Bustos, Hassan Mashbari, Antonio Gangemi
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Gallbladder volvulus (GV) is an axial twisting of the gallbladder (GB). If not treated on time, this condition has a mortality up to 6%. It is usually diagnosed intraoperatively, because it can mimic a typical acute cholecystitis. An 81-year-old female patient presented with an acute onset of right upper quadrant pain accompanied with nausea. The patient was admitted to receive treatment for acute cholecystitis after the findings of ultrasound imaging. Robotic-assisted cholecystectomy was the approach chosen. GV was diagnosed after initial diagnostic laparoscopy. Cholecystectomy was performed uneventfully. Indocyanine green fluorescence was used to assess the biliary anatomy. The postoperatory course went uneventful. The patient was discharged home on postoperatory day 2.
Subdiaphragmatic bronchogenic cysts: Case series and literature review
Authors: Jianchun Xiao, Xueyang Zhang, Hongru Zhou, Tao Hong, Binglu Li, Xiaodong He, Wei Liu
Journal: Front Med (Lausanne) (2022)
Keywords: bronchogenic cyst, case series, literature review, subdiaphragmatic, subdiaphragmatic bronchogenic cyst

Bronchogenic cysts are congenital malformations caused by aberrant foregut budding. They major occur in the thorax, with subdiaphragmatic cases being uncommon. Here, we present a series of 19 patients diagnosed with subdiaphragmatic bronchogenic cysts histopathologically at a single institution in China from 2012 to 2021. A literature review was also conducted by searching the PubMed database using keywords related to "bronchogenic cysts" and "subdiaphragmatic," yielding 107 cases. Taken together, the 126 cases had a median age of 41.0 years (interquartile range, 30.0-51.0 years) and 62 of them were male (49.2%). The cysts were most commonly detected in the left adrenal region (36.2%), followed by the pancreatic region (11.5%) and gastric cardia/lesser curvature of the stomach (9.2%). All patients except two underwent surgery for a definite diagnosis, symptom alleviation, and (or) malignancy prevention. Most patients recovered fast and were discharged from the hospital within 1 week after surgery, and the surgical complications were infrequent. The prognosis was generally favorable, as no recurrence was reported during the follow-up as long as 77 months.
A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Authors: Salam Massadeh, Muhammad Umair, Manal Alaamery, Majid Alfadhel
Journal: Front Neurol (2019)
Keywords: mthfr, microcephaly, non-sense mutation, severe methylenetetrahydrofolate reductase deficiency, white matter disease
MeSH terms: Case Reports

Background: Severe 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency is a heterogeneous metabolic disorder inherited in an autosomal recessive manner. Pathogenic mutations in MTHFR gene have been associated with severe MTHFR deficiency. The clinical presentation of MTHFR deficiency is highly variable and associated with several neurological anomalies. Methods: Direct whole-exome sequencing (WES) was performed in all the five available individuals from the family, including the affected individual (III-7) using standard procedures. Results: We observed a proband (III-7) with an abnormality in the cerebral white matter, apnoea, and microcephaly. WES analysis identified a novel homozygous non-sense mutation (c.154C>T; p.Arg52*) in MTHFR gene that segregated with the disease phenotype within the family. Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation.
Pancreatic Inflammatory Pseudotumor-Like Follicular Dendritic Cell Tumor
Authors: Madison Mograbi, Michael S Stump, David T Luyimbazi, Mohammad H Shakhatreh, Douglas J Grider
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

Follicular dendritic cell sarcoma (FDCS) is a rare and underdiagnosed malignant neoplasm which characteristically presents as a solitary, slow-growing mass with no discrete symptoms. Histologically, lymphocytes and spindle cells featuring large nucleoli in a whorled pattern are usually seen. FDCS is classically found in cervical and axillary lymph nodes, with occasional involvement of extranodal sites. Inflammatory pseudotumor-like follicular dendritic cell tumor (IPT-like FDCT) is an uncommon subcategory of this neoplasm, demonstratively linked to the Epstein-Barr virus (EBV). This neoplasm can present similarly to FDCS, but systemic symptoms may be seen. Although, often found in the spleen and occasionally the liver, IPT-like FDCT has not previously been described within the pancreas. Presented, is an IPT-like FDCT of the pancreas and spleen of a 70 years old woman. Histologic features include variably sized geographic suppurative granulomas with chronic inflammatory cells and an atypical spindle cell proliferation with prominent nucleoli. Positivity for CD45 and CD68 in the larger spindled cells points to an inflammatory pseudotumor subtype and co-expression of CD21, CD23, and CD35 were indicative of follicular dendritic differentiation. The pseudotumor additionally demonstrated EBV-encoded RNA (EBER) positivity typical of IPT-like FDCT. Differentiation between inflammatory pseudotumor (IPT) and inflammatory myofibroblastic tumor (IMT) is additionally discussed.
Jejunal Intussusception in Adolescent Crohn's Disease: An Extremely Rare Complication
Authors: Narendra Pandit, Sujan Gautam, Tek Narayan Yadav, Lawa Kumar Mandal, Kunal Bikram Deo
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Proximal small bowel intussusception occurring in an adolescent Crohn's disease patient is an extremely rare entity. It is usually primary without a lead point and quite often a transient phenomenon. We report such transient and intermittent jejunal intussusception in a 16-year-old male, developing immediately in a postoperative period after a stoma reversal for jejunal stricture perforation peritonitis.
A simple insightful approach to investigating a hospital standardised mortality ratio: an illustrative case-study
Authors: Mohammed A Mohammed, Andrew J Stevens
Journal: PLoS One (2013)
MeSH terms: Hospital Mortality, Patient Admission / statistics & numerical data, Diagnosis-Related Groups, Hospitalization / statistics & numerical data, Humans, Patient Discharge, Quality Assurance, Health Care, Quality Indicators, Health Care, Retrospective Studies, Risk Adjustment, United Kingdom

Background:
Despite methodological concerns Hospital Standardised Mortality Ratios (HSMRs) are promoted as measures of performance. Hospitals that experience an increase in their HSMR are presented with a serious challenge but with little guidance on how to investigate this complex phenomenon. We illustrate a simple penetrating approach.
Methods:
Retrospective analysis of routinely collected hospital admissions data comparing observed and expected deaths predicted by the Dr Foster Unit case mix adjustment method over three years (n = 74,860 admissions) in Shropshire and Telford NHS Trust Hospital (SaTH) constituting PRH (Princess Royal Hospital) and RSH (Royal Shrewsbury Hospital); whose HSMR increased from 99 in the year 2008/09 to 118 in the year 2009/10.
Results:
The step up in HSMR was primarily located in PRH (109 to 130 vs. 105 to 118 RSH). Disentangling the HSMR by plotting run charts of observed and expected deaths showed that observed deaths were stable in RSH and PRH but expected deaths, especially at PRH, had fallen. The fall in expected deaths has two possible explanations-genuinely lower risk admissions or that the case-mix adjustment model is underestimating the risk of admissions perhaps because of inadequate clinical coding. There was no evidence that the case-mix profile of admissions had changed but there was considerable evidence that clinical coding process at PRH was producing a lower depth of coding resulting in lower expected mortality.
Conclusion:
Knowing whether the change (increase/decrease) in HSMR is driven by the numerator or the denominator is a crucial pivotal first step in understanding a given HSMR and so such information should be an integral part of the HSMR reporting methodology.
Case report: Conversion therapy for advanced intrahepatic cholangiocarcinoma using PD-1 inhibitor plus S-1 and nab-paclitaxel
Authors: Xiaocheng Li, Zhiyang Jiang, Yongjuan Wu, Wei Gong, Xiaofeng Liao, Xiaogang Li
Journal: Front Oncol (2022)
Keywords: case report, complete remission, conversion therapy, immunotherapy combined therapy, intrahepatic cholangiocarcinoma
MeSH terms: Case Reports

Intrahepatic cholangiocarcinoma (iCCA) is a highly malignant hepatobiliary tumor with a high rate of advanced disease at initial presentation. Conversion into resectable iCCA is important for improving the prognosis. Immunotherapy-based regimens are being increasingly used for treating advanced iCCA in recent years. However, the use of combined chemotherapy and immunotherapy for conversion has rarely been reported. The aim of this report was to present the outcomes of a 52-year-old female patient with IIIB iCCA. The patient was treated with a programmed cell death protein-1 inhibitor plus S-1 and nab-paclitaxel. The postoperative histopathological results indicated pathologic complete response after six cycles of systematic treatment. The patient is currently disease-free for one year.
Congenital cystic adenomatoid malformation: is there a need for pregnancy termination?
Authors: C Iavazzo, M Eleftheriades, A M Bacanu, D Hassiakos, D Botsis
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Aim. Congenital cystic adenomatoid lung malformation is a rare unilateral dysplasia of the lung. Three pathologic types are described in the literature: type I with cysts >2 cm, type II with cysts <1 cm, and type III with microcysts. The aim of this paper is to present a case of a fetus with congenital cystic adenomatoid lung malformation and discuss the necessity for pregnancy termination according to its prognosis and future mortality. Case. A 36-year-old pregnant woman (para: 1, gravida: 1) presented in our department for anatomy ultrasound screening at 20 + 1 weeks of gestation. The ultrasound detected a cystic adenomatoid right lung malformation measuring 1.45 × 1.67 cm which caused mediastinal shift of the heart and the lung to the left side. Other findings were cysts of the choroid plexus and echogenic intracardiac foci. The parents after genetic counseling decided pregnancy termination. The pregnant received cabergoline for ablactation. Conclusion. Congenital cystic adenomatoid lung malformation has different prognosis according to the type (69% in type I, 0% in types II and III). Fetal hydrops, cardiac and skeletal anomalies, Potter's syndrome, and gastrointestinal atresia are common cofindings. Genetic counseling is necessary, and pregnancy termination is proposed to the cases with poor prognosis.
Acute right iliac fossa pain: not always appendicitis or a caecal tumour: two case reports
Authors: Susim Kumar, Gerard J Fitzmaurice, Mark E O'Donnell, Robin Brown
Journal: Cases J (2009)

Background:
A solitary diverticulum of the caecum is a rare benign condition which was first described by Potier in 1912 1. Clinical symptoms are usually a manifestation of complications arising from inflammation, perforation or haemorrhage. Despite radiological imaging, a pre-operative diagnosis is infrequent.
Case presentation:
We report two cases of right iliac fossa pain associated with a solitary caecal diverticulum. We discuss the clinical presentation, investigative modalities, and current therapeutic guidelines associated with this rare condition and highlight the difference from the more common conditions of appendicitis in the young and caecal neoplasms in the older patient.
Conclusion:
Complications of a solitary caecal diverticulum should be considered in the differential diagnosis of acute right lower quadrant pain. Mild caecal diverticulitis verified pre-operatively by radiological imaging or laparoscopically can be ameliorated by antibiotics alone. However, severe inflammation, perforation, haemorrhage or torsion necessitates a localised or radical resection. The presence of multiple diverticula, caecal phlegmon, or the inability to rule out an underlying caecal neoplasm warrants a right hemicolectomy.
Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients
Authors: Alexander E Volk, Oliver Carter, Julia Fricke, Peter Herkenrath, Jörg Poggenborg, Guntram Borck, Andre W Demant, Roland Ivo, Peer Eysel, Christian Kubisch, Antje Neugebauer
Journal: Mol Vis (2011)
MeSH terms: Ocular Motility Disorders / genetics, Receptors, Immunologic / genetics, Scoliosis / genetics, Case Reports, Adolescent, Base Sequence, Child, Consanguinity, DNA Mutational Analysis, Early Diagnosis, Female, Humans, Magnetic Resonance Imaging, Male, Molecular Sequence Data, Mutation, Ocular Motility Disorders / complications, Ocular Motility Disorders / diagnosis, Ocular Motility Disorders / pathology, Pedigree, Phenotype, Receptors, Cell Surface, Saudi Arabia, Scoliosis / complications, Scoliosis / diagnosis, Scoliosis / pathology, Siblings, Turkey, Vision Tests, ROBO3 protein, human, Receptors, Cell Surface, Receptors, Immunologic

Purpose:
Clinical and molecular characterization of patients with horizontal gaze palsy with progressive scoliosis (HGPPS) to extend existing knowledge of the phenotype caused by mutations in the Roundabout homolog of Drosophila 3 (ROBO3) gene.
Methods:
Four patients (aged 6 months to 13 years), two of them siblings, with features of horizontal gaze palsy and their parents were examined clinically and by molecular testing of the ROBO3 gene. The three families were unrelated, but parents in each family were consanguineous.
Results:
We identified three novel homozygous ROBO3 mutations in four patients with typical ophthalmologic signs of HGPPS. We found an exonic insertion/deletion mutation (c.913delAinsTGC; p.Ile305CysfsX13), a 31 bp deletion including the donor splice site of exon 17 and adjacent exonic and intronic sequences (c.2769_2779del11, 2779+1_+20del20), and a missense mutation located next to a splice donor site (c.3319A>C) resulting in skipping of exon 22, as shown by cDNA analysis.
Conclusions:
We describe three novel mutations in the ROBO3 gene and the detailed clinical phenotype of HGPPS. One patient displayed marked convergence upon attempting smooth pursuits to both sides. In one patient, the typical ophthalmologic phenotype, the neuroradiologic findings, and molecular testing led to the diagnosis even before scoliosis developed. In addition to the typical magnetic resonance imaging brain signs of HGPPS, this patient had marked hypoplasia of the frontal lobes and corpus callosum. In summary, diagnosis of HGPPS may be established by ophthalmologic and molecular investigation early in life, allowing ongoing orthopedic surveillance from an early stage.
Common yew intoxication: a case report
Authors: Martin Vališ, Jaromír Kočí, David Tuček, Tomas Lutonský, Jana Kopová, Petr Bartoń, Oldřich Vyšata, Dagmar Krajíčková, Jan Korábečný, Jiří Masopust, Ludovít Klzo
Journal: J Med Case Rep (2014)

Introduction:
Taxine alkaloids cause fatal poisoning, in particular due to the compound's toxic effect on the cardiovascular apparatus.
Case presentation:
We describe the case of a 39-year-old Caucasian man with common yew intoxication for whom cardiopulmonary resuscitation using all available methods, although delayed and extended, was successful.
Conclusions:
Extended and delayed cardiopulmonary resuscitation can be used successfully to treat common yew intoxication.
Successful treatment of metastatic uveal melanoma with ipilimumab and nivolumab after severe progression under tebentafusp: a case report
Authors: Selina Reiter, Christopher Schroeder, Julian Broche, Tobias Sinnberg, Irina Bonzheim, Daniela Süsskind, Lukas Flatz, Andrea Forschner
Journal: Front Oncol (2023)
Keywords: bi-specific therapy, ctdna, immune checkpoint inhibitors, tebentafusp, uveal melanoma
MeSH terms: Case Reports

Metastatic uveal melanoma (UM) is a rare form of melanoma differing from cutaneous melanoma by etiology, prognosis, driver mutations, pattern of metastases and poor response rate to immune checkpoint inhibitors (ICI). Recently, a bispecific gp100 peptide-HLA-directed CD3 T cell engager, tebentafusp, has been approved for the treatment of HLA-A*02:01 metastatic or unresectable UM. While the treatment regime is complex with weekly administrations and close monitoring, the response rate is limited. Only a few data exist on combined ICI in UM after previous progression on tebentafusp. In this case report, we present a patient with metastatic UM who first suffered extensive progression under treatment with tebentafusp but in the following had an excellent response to combined ICI. We discuss possible interactions that could explain responsiveness to ICI after pretreatment with tebentafusp in advanced UM.
Epithelial-Myoepithelial Carcinoma of the Esophagus: A Case Report
Authors: Haohao Wu, Fangbiao Zhang, Jiahui Peng, Zhiju Wu, Xiangyan Zhang, Xingzhen Wu
Journal: Front Surg (2022)
Keywords: carcinoma, epithelial, esophagus, myoepithelial, surgery
MeSH terms: Case Reports

Epithelial-myoepithelial carcinoma (EMC) of the esophagus is a rare biphasic tumor with low malignant potential, which has not previously been reported in the published literature. The present study describes the case of an asymptomatic, 53-year-old male who presented with EMC in the esophagus during a gastroscopic examination. Esophageal computed tomography (CT) showed thickening of the wall of the lower esophagus with a thickness of about 0.7 cm, and an enhanced scan showed uneven enhancement of the thickened esophageal wall. Thoracoscopic esophagectomy was performed because the tumor was malignant. Histopathology revealed that the tumor was characterized by a biphasic architecture consisting of cuboidal ductal cells and myoepithelial cells. The patient's postoperative recovery was eventful, an anastomotic fistula occurred, and the patient was discharged from the hospital after 84 days. One year postsurgery, the patient remained in good health, with no evidence of metastasis and recurrence.