OpenMed/multicare-articles huggingface dataset:
Diagnosis and Management of Spontaneous Lumbar Venous Retroperitoneal Hematoma in Setting of Deep Venous Thrombosis: A Case Report and Algorithm
Authors: Joseph Tseng, Michael Leshen, Todd Chapman, Ryan Scott, Olga Kalinkin
Journal: Case Rep Radiol (2016)

Retroperitoneal hematoma is rare and benefits from a systematic approach to prevent morbidity and mortality. Management of such bleeds is based upon patient stability, the cause (spontaneous or posttraumatic), and source (arterial or venous). Herein, the authors describe a diagnostic and management algorithm for retroperitoneal hemorrhage with an example of a rare lumbar venous bleed under the complicated clinical setting of deep venous thrombosis.
Insulinoma in pediatric tuberous sclerosis complex: a case report
Authors: Katia Librandi, Serena Grimaldi, Silvia Catalano, Francesco Moro, Stefano Gabriele Vallero, Marco Spada, Francesco Porta
Journal: Front Pediatr (2023)
Keywords: pnet, tsc, insulinoma, oncology, tuberous sclerosis complex (tsc)
MeSH terms: Case Reports

Background:
Tuberous sclerosis complex (TSC) is a rare multisystemic disorder. This genetically determined disease is characterized by highly variable clinical expression, including epilepsy as a common feature. Seizures can also occur as a manifestation of symptomatic hypoglycemia. The latter could be caused by an insulinoma, whose association to TSC has already been debated. In TSC-associated tumors, dysregulation of the mTOR pathway is believed to be present, leading to significant impacts on cellular metabolism, growht, and proliferation. To date, the association between TSC and insulinoma has been reported in 11 adults. Here, we present the first case of a pediatric patient with TSC diagnosed with an insulinoma and review the existing literature on this topic.
Case presentation:
A 11-year-old female with TSC presented with seizures unresponsive to standard therapy. Further investigation revealed that these seizures were caused by hypoglycemia. Subsequent evaluation led to the diagnosis of a pancreatic insulinoma, which was surgically removed. Following the procedure, the patient was free from seizures.
Conclusions:
In individuals with TSC, the recurrence of epileptiform episodes throughout their lifetime, especially if previously well controlled with antiepileptic therapy, should raise suspicion for hypoglycemic events. These events may potentially be associated with the presence of an insulinoma. Further research and increased awareness are necessary to gain a better understanding of the association between TSC and insulinomas, and to guide clinical management strategies.
Developed diplopia due to a pituitary macroadenoma during pregnancy
Authors: Houda Ennaifer, Manel Jemel, Hejer Kandar, Wafa Grira, Ines Kammoun, Leila Ben Salem
Journal: Pan Afr Med J (2018)
Keywords: diplopia, pituitary adenoma, pregnancy, ptosis
MeSH terms: Adenoma / diagnosis, Diplopia / etiology, Pituitary Neoplasms / diagnosis, Pregnancy Complications, Neoplastic / diagnosis, Case Reports, Adenoma / complications, Adenoma / drug therapy, Adult, Bromocriptine / therapeutic use, Diplopia / drug therapy, Female, Headache / drug therapy, Headache / etiology, Humans, Magnetic Resonance Imaging, Pituitary Neoplasms / complications, Pituitary Neoplasms / drug therapy, Pregnancy, Pregnancy Complications, Neoplastic / drug therapy, Vision Disorders / drug therapy, Vision Disorders / etiology, Bromocriptine

Physiologic pituitary enlargement is common during normal pregnancy. However, symptoms such as diplopia, blurred vision and headache resulting from physiologic pituitary enlargement are very rare during pregnancy. A 43-year-old woman complained of sudden headache and left eye ptosis at 36th weeks of gestation. An magnetic resonance imaging (MRI) demonstrated the pituitary enlargement and a macroadenoma without a compressing of the optic chiasm, but with an extension to the left cavernous sinus. 48 hours after the prescription of the bromocriptine, we had a spectacular evolution with disappearance of the headache and a total regression of the ptosis. We report a case of visual loss due to the physiologic pituitary enlargement or to the macroadenoma during pregnancy, which regressed after the prescription of bromocroptine.
Case Report: Transformation From Non-Small Cell Lung Cancer to Small Cell Lung Cancer During Anti-PD-1 Therapy: A Report of Two Cases
Authors: Qian Shen, Jingjing Qu, Lingyan Sheng, Qiqi Gao, Jianying Zhou
Journal: Front Oncol (2021)
Keywords: pd-1 inhibitors, lung squamous cell carcinomas, resistant, small-cell lung cancer, transformation
MeSH terms: Case Reports

Background:
Histological transformation of lung cancer to small cell lung cancer (SCLC) is uncommon. It is a small subset of the possible resistance mechanisms, even in epidermal growth factor receptor (EGFR)-mutated non-small cell lung cancer treated with EGFR-tyrosine kinase inhibitors. Reports on programmed cell death-1 (PD-1) inhibitors are rare. We report two cases of lung squamous carcinomas that transformed to SCLC during anti-PD-1 therapy, and present a detailed description of histological examination of the pre-and post-transformation tissues, hitherto absent from reports on the topic.
Case presentation:
Case 1: A 69-year-old man was diagnosed with stage IVa squamous cell carcinoma of the lung. He had a programmed cell death-ligand 1 tumor proportion score ≥50%. He achieved partial response after four cycles of sintilimab as first-line treatment. However, sintilimab was discontinued because of severe decrease in hemoglobin levels and platelet counts. Moreover, the occurrence of pleural effusion favored disease progression. Interestingly, bone marrow puncture and biopsy showed transformation to SCLC. Case 2: A 71-year-old man diagnosed with stage IIIa lung squamous cell carcinoma received neoadjuvant chemotherapy, underwent radical surgery, and finally received adjuvant chemotherapy. Five months later, he presented with tumor recurrence. He was treated with nivolumab, though disease progression was observed after four cycles. Notably, a subsequent computed tomography-guided biopsy showed SCLC.
Conclusion:
Phenotypic transformation to SCLC is a potential mechanism of resistance to immunotherapy in squamous cell carcinomas of the lung. Disease progression should prompt re-biopsy to diagnose potential histological changes to assess the requirement for change in treatment.
Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl
Authors: Avinash V Dharmadhikari, Elaine M Pereira, Carli C Andrews, Michael Macera, Nina Harkavy, Ronald Wapner, Vaidehi Jobanputra, Brynn Levy, Mythily Ganapathi, Jun Liao
Journal: Front Genet (2022)
Keywords: 13q311, chromosomal microarray, neocentromere, non-invasive prenatal screening, supernumerary marker chromosome
MeSH terms: Case Reports

Partial tetrasomy of distal 13q has a reported association with a variable phenotype including microphthalmia, ear abnormalities, hypotelorism, facial dysmorphisms, urogenital defects, pigmentation and skin defects, and severe learning difficulties. A wide range of mosaicism has been reported, which may, to some extent, account for the variable spectrum of observed phenotypes. We report here a pregnancy conceived using intrauterine insemination in a 32-year-old female with a history of infertility. Non-invasive prenatal screening (NIPS) was performed in the first trimester which reported an increased risk for trisomy 13. Follow-up cytogenetic workup using chorionic villus sampling (CVS) and amniotic fluid samples showed a mosaic karyotype with a small supernumerary marker chromosome (sSMC). Chromosomal microarray analysis (CMA) identified a mosaic 31.34 Mb terminal gain on chr13q31.1q34 showing the likely origin of the sSMC to distal chromosome 13q. Follow-up metaphase FISH testing suggested an inverted duplication rearrangement involving 13q31q34 in the marker chromosome and the presence of a neocentromere. At 21 months of age, the proband has a history of gross motor delay, hypotonia, left microphthalmia, strabismus, congenital anomaly of the right optic nerve, hemangiomas, and a tethered spinal cord. Postnatal chromosome analyses in buccal, peripheral blood, and spinal cord ligament tissues were consistent with the previous amniocentesis and CVS findings, and the degree of mosaicism varied from 25 to 80%. It is often challenging to pinpoint the chromosomal identity of sSMCs using banding cytogenetics. A combination of low-pass genome sequencing of cell-free DNA, chromosomal microarray, and FISH enabled the identification of the precise chromosomal rearrangement in this patient. This study adds to the growing list of clinically identified neocentric marker chromosomes and is the first described instance of partial tetrasomy 13q31q34 identified in a mosaic state prenatally. Since NIPS is now being routinely performed along with invasive testing for advanced maternal age, an increased prenatal detection rate for mosaic sSMCs in otherwise normal pregnancies is expected. Future studies investigating how neocentromeres mediate gene expression changes could help identify potential epigenetic targets as treatment options to rescue or reverse the phenotypes seen in patients with congenital neocentromeres.
Not the Stereotypical Wilson Disease: A Case Report
Authors: Amlan Kusum Datta, Adreesh Mukherjee, Jasodhara Chaudhuri, Alak Pandit, Goutam Gangopadhyay
Journal: Tremor Other Hyperkinet Mov (N Y) (2021)
Keywords: hyperkinetic movements, mri brain, stereotypies, wilson disease
MeSH terms: Hepatolenticular Degeneration / diagnostic imaging, Hepatolenticular Degeneration / drug therapy, Case Reports, Brain / diagnostic imaging, Child, Copper, Female, Humans, Copper

Background:
Wilson disease (WD), a potentially treatable genetic disorder with perturbations in copper metabolism, presents with hepatic and neuropsychiatric manifestations. Both hyper and hypokinetic movements predominate the latter spectrum. Motor stereotypies, however, are exceedingly rare.
Case report:
We present a case of a 12-year-old girl, with progressive behavioural alterations and cognitive impairment, with motor stereotypies involving the upper limbs, as the dominant movement semiology. She was diagnosed as WD with evidence of striatal involvement on brain imaging. Her motor symptoms partially responded to chelation therapy.
Discussion:
There are about five documented cases of motor stereotypies in WD worldwide, with only one being previously reported from India.
Left orbital compartment syndrome and right anterior ischemic optic neuropathy in a patient with severe burns despite non-aggressive fluid resuscitation
Authors: Achmed Pircher, Sebastian Holm, Fredrik Huss
Journal: Scars Burn Heal (2021)
Keywords: burn, flame burns, fluid resuscitation, ischemic optic neuropathy, lateral canthotomy, orbital compartment syndrome
MeSH terms: Case Reports

Introduction:
Ophthalmological complications such as orbital compartment syndrome (OCS) and ischemic optic neuropathy are rare complications in patients with burns and have been described in patients where aggressive fluid resuscitation was performed. While OCS requires urgent surgical intervention, no current treatment is established to treat, or prevent, ischemic optic neuropathy in patients with burns.
Methods:
The authors report a case of a 38-year-old woman with flame burns including the periorbital regions who developed OCS on the left side and anterior ischemic optic neuropathy (AION) on the right side despite non-aggressive fluid resuscitation. Immediate lateral canthotomy combined with inferior cantholysis was performed on the left side.
Discussion and conclusion:
OCS and AION need to be considered as potential complications even in critically ill patients with facial burns who do not receive aggressive fluid resuscitation. Whether an early surgical intervention will lower the risk of AION development is, however, speculative.
Lay summary:
Ophthalmological complications such as orbital compartment syndrome and ischemic optic neuropathy are rare complications in patients with burns and have been described in patients where aggressive fluid resuscitation was performed. We present a case of a critically ill patient with severe facial burns who developed orbital compartment syndrome on the left side and anterior ischemic optic neuropathy on the right side even though our patient did not receive aggressive fluid resuscitation.Our case is particular because both of these rare complications are seen in a single patient and neither received aggressive fluid resuscitation. The fact that the patient did not develop ischemic optic neuropathy on the side where the lateral canthotomy was performed (only on the side where the patient had orbital compartment syndrome), this case might raise the discussion of whether an early surgical intervention might lower the risk of ischemic optic neuropathy development in patients with facial burns.
Clinical Benefit of Niraparib to TKI/mTORi-Resistance Metastatic ccRCC With BAP1-Frame Shift Mutation: Case Report and Literature Review
Authors: Bi-Jun Lian, Ke Zhang, Xu-Dong Fang, Feng Li, Zhao Dai, Wei-Ying Chen, Xiao-Ping Qi
Journal: Front Oncol (2022)
Keywords: bap1 mutation, case report, clear cell renal cell carcinoma, niraparib, resistance
MeSH terms: Case Reports

Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cancer. The top four mutant genes affecting the occurrence and progression of ccRCC are VHL, PBRM1, BAP1, and SETD2, respectively. Tyrosine kinase/mammalian target of rapamycin inhibitors (TKI/mTORis) with or without immunotherapy are the standard and effective therapy to metastatic ccRCC. Once TKI/mTORis fail to ccRCC, there is still a lack of other effective therapies. In this study, we reported a case in which a metastatic ccRCC patient (T2aN1M1) presented resistance after a 28-month treatment by sorafenib-axitinib-everolimus (TKI-TKI-mTORi). Subsequently, a frame shift pathogenic mutation, c.799_800del (p.Q267fs) in the exon10 of BAP1 in ccRCC, was revealed by targeted sequencing. Oral administration of nilapanib (PARP inhibitor) was further given, which may provide a new therapy for TKI/mTORi-resistance metastatic ccRCC. Fortunately, a partial response has been achieved and lasted for 5 months. Since the frequency of BAP1 mutations in ccRCC patients was approximately 10%-20%, as reported previously, we also tried to explore the potential mechanisms benefitting from the nilapanib. Moreover, the literature concerning BAP1 mutation and associated cancers including ccRCC is reviewed.
Case Report: Post-CAR-T Infusion HBV Reactivation in Two Lymphoma Patients Despite Entecavir Preventive Therapy
Authors: Yaxian Ma, Li Yang, Yuhan Bao, Yang Yang, Liting Chen, Miao Zheng
Journal: Front Immunol (2021)
Keywords: car t, antiviral therapy, hepatitis b virus, lymphoma, reactivation
MeSH terms: Antiviral Agents / therapeutic use, Guanine / analogs & derivatives, Hepatitis B / prevention & control, Immunotherapy, Adoptive, Latent Infection / prevention & control, Lymphoma / therapy, Case Reports, Research Support, Non-U.S. Gov't, Female, Guanine / therapeutic use, Hepatitis B virus, Humans, Infusions, Intravenous, Lymphoma / virology, Male, Middle Aged, Receptors, Chimeric Antigen, Treatment Failure, Antiviral Agents, Receptors, Chimeric Antigen, entecavir, Guanine

Hepatitis B virus (HBV) reactivation is a common complication in chronic or resolved HBV infection patients undergoing immunosuppressive chemotherapy. Furthermore, few articles have been published regarding the risk of HBV reactivation in lymphoma patients receiving chimeric antigen receptor (CAR) T-cell therapy and anti-HBV prophylaxis. Few guidelines or clear optimal strategies are available for managing these patients. Here, we present two cases of patients who underwent CAR-T-cell cocktail therapy with anti-CD19 and anti-CD22 CAR (CAR19/22) T cell for lymphoma. Patients had previous history of HBV infection, and blood tests on initial admission indicated positive results for hepatitis B surface antigen (HBsAg), antibody to hepatitis B core antigen (anti-HBc), and antibody to hepatitis B e antigen (anti-HBe), while serum HBV DNA level was undetectable. Therefore, two patients received entecavir as antiviral prophylactic therapy during their entire treatment. They were diagnosed with HBV reactivation based on positive serum HBV DNA test results, 2 weeks after CAR-T-cell infusion. Liver function assay indicated elevated levels of alanine transaminase (ALT) and aspartate transaminase (AST), combined with increased levels of total bilirubin (TBIL) and direct bilirubin (DBIL). Subsequently, they received anti-HBV treatment with entecavir and tenofovir. As a result, their serum HBV DNA copies and AST/ALT levels returned to normal after 1 week. These cases show that there is a risk of HBV reactivation in lymphoma patients with CAR-T-cell therapy despite entecavir preventive therapy, and combination treatment of entecavir and tenofovir may be an effective treatment option for such patients with HBV reactivation.
Tracheal Mucoepidermoid Carcinoma Mimicking Deteriorated Bronchial Asthma during Pregnancy
Authors: Takeshi Murakami, Yasuyuki Fujita, Kazuhiro Takamura, Shuichi Taniguchi, Chikara Fukuyama, Kousuke Marutsuka, Tomihiro Shimamoto
Journal: Case Rep Obstet Gynecol (2021)
MeSH terms: Case Reports

Primary bronchial tumors are extremely rare. However, symptoms, such as coughing and wheezing, are not specific to this disease, and primary bronchial tumors are often misdiagnosed as bronchial asthma. This report describes the case of a pregnant patient with a bronchial tumor that mimicked deteriorating bronchial asthma. A 37-year-old female patient suffered from repeated episodes of pneumonia since 26 weeks of gestation. Despite treatment, she suffered from another episode of pneumonia at 28 weeks of gestation. This was considered as deteriorating asthma. Bronchoscopy performed at 34 weeks of gestation showed a tumor in the left main lung bronchus, obstructing nearly 100% of the trachea. After cesarean delivery at 34 weeks, she underwent endoscopic bronchial tumor resection. Because of recurrent bronchial obstruction and the possibility of malignant disease, subsequent left main lung bronchial resection and bronchoplasty were performed. The pathological diagnosis was low-grade mucoepidermoid carcinoma. In conclusion, if pneumonia develops repeatedly during pregnancy, the possibility of bronchial tumor should be considered.
Erdheim-chester disease revealed by diabetes insipidus
Authors: Bilel Ben Amor, Hanene Sayadi, Manel Jemel, Houcem Mrabet, Rym Hadhri, Tensim Slim, Rym Klii, Ines Khochtali
Journal: Pan Afr Med J (2019)
Keywords: erdheim-chester disease, diabetes insipidus, interferon alpha
MeSH terms: Cerebellar Ataxia / etiology, Diabetes Insipidus / etiology, Erdheim-Chester Disease / diagnosis, Case Reports, Delayed Diagnosis, Erdheim-Chester Disease / complications, Erdheim-Chester Disease / drug therapy, Female, Humans, Interferon-alpha / administration & dosage, Middle Aged, Polyethylene Glycols / chemistry, Prognosis, Tunisia, Interferon-alpha, Polyethylene Glycols

Erdheim-Chester disease (ECD) is a very rare and aggressive form of non-Langerhans histiocytosis with unclear pathogenesis. Because of the heterogeneity of clinical presentation, diagnosis is often challenging and delayed. Currently, Interferon alpha is the first line treatment that is associated with a better survival. The prognosis is relatively poor, especially in case of neurological and cardiovascular involvement. Herein, we report the case of a 64-year-old Tunisian female patient presenting an aggressive form of ECD revealed by diabetes insipidus and cerebellar ataxia with a diagnosis delay of 4 years. The assessment of disease extent had also shown associated asymptomatic cardiac and bone involvement. Pegylated Interferon alpha was started at high dose allowing disease stabilization. This case illustrates that physicians should be aware of the heterogeneous manifestations of ECD in order to insure an early diagnosis and treatment. Long-term and regular follow-up is crucial because of the risk of disease progression.
Prone Position Ventilation Used during a Transfer as a Bridge to Ecmo Therapy in Hantavirus-Induced Severe Cardiopulmonary Syndrome
Authors: R Cornejo, D Ugalde, O Llanos, P Bisbal, L De la Barrera, C Romero, R Neira, Roberto González, J Gajardo
Journal: Case Rep Crit Care (2013)

Background. Transport of critically ill patients is a complex issue. We present a case using prone positioning as a bridge to extracorporeal membrane oxygenation (ECMO), performed by a critical retrieval team from a university hospital. Case Report. A 28-year-old male developed fever, progressive respiratory failure, and shock. He was admitted to ICU from a public hospital, and mechanical ventilation was begun, but clinical response was not adequate. ECMO was deemed necessary due to severe respiratory failure and severe shock. A critical retrieval team of our center was assembled to attempt transfer. Prone positioning was employed to stabilize and transfer the patient, after risk-benefit assessment. Once in our hospital, ECMO was useful to resolve shock and pulmonary edema secondary to Hantavirus cardiopulmonary syndrome. Finally, he was discharged with normal functioning. Conclusion. This case exemplifies the relevance of a retrieval team and bridge therapy. Prone positioning improves oxygenation and is safe to perform as transport if performed by a trained team as in this case. Preparation and organization is necessary to improve outcomes, using teams and organized networks. Catastrophic respiratory failure and shock should not be contraindications to transferring patients, but it must be done with an experienced team.
A 3-Dimensional Printed Patient-Specific Surgical Guide to Facilitate Transsphenoidal Hypophysectomy in Dogs
Authors: Leticia Escauriaza, Joe Fenn, John McCue, Darren Roper, Helene Vandenberghe, George Nye, Bill Oxley, Nicolas Granger
Journal: Front Vet Sci (2022)
Keywords: 3d printing, companion dogs, computed tomography, hypophysectomy, neurosurgery, pituitary dependent hyperadrenocorticism

Objective:
Hypophysectomy in dogs is a difficult surgery that requires specific learning and training. We aimed to evaluate the accuracy of a 3-dimensional printed patient-specific surgical guide to facilitate choosing the entry point in the basisphenoid bone before approaching the sella turcica during transsphenoidal hypophysectomy in dogs.
Methods:
Two canine cadavers and 8 dogs undergoing transsphenoidal hypophysectomy for Cushing's disease treatment, involving design and fabrication of a 3-dimensional printed guide. The ideal entry point in the basisphenoid bone outer cortical layer was determined in each dog pre-operatively; its anatomical location was described with a set of measurements then compared to post-operative computed tomography measures describing the location of the outer cortical window created in the basisphenoid bone.
Results:
Several guide designs were proposed, and a consensus reached based on surgeons' experience performing hypophysectomy. The device chosen could be applied to the size and shape of skulls encountered in this case series. The pre-planned measurements were comparable to post-operative measurement (there was also no statistical difference), with median of differences <0.1 mm, which we judged as clinically acceptable.
Clinical significance:
Hypophysectomy in dogs is a challenging procedure that has a learning curve and needs to be performed by specialist neurosurgeons. We propose that a low-profile 3-dimensional printed surgical guide can aid the specialist neurosurgeon to locate the burring site of the outer cortical layer of the basisphenoid bone at a pre-defined location and with good accuracy. It does not alleviate the need to understand the anatomy of the region and to know how to create a slot within the basisphenoid bone, which remains essential to enter the sella turcica. This device could help specialist veterinary neurosurgeons wishing to be trained to perform hypophysectomy.