OpenMed/multicare-articles huggingface dataset:
Preserving fertility in an unconscious patient with Goodpasture syndrome-medicolegal and ethical aspects
Authors: Doreen Stark, Ruth Stiller, Min Xie, Damian Weber, Marco Maggiorini, Matthias Peter Hilty
Journal: J Intensive Care (2018)
Keywords: fertility, goodpasture syndrome, legal objectives, substituted judgment standard
MeSH terms: Case Reports

Background:
Every day in the ICU, legal issues arise while treating sedated, unconscious, and legally incapacitated patients. Whenever a life-saving treatment cannot be discussed in a timely manner with an unconscious patient, doctors are required by law to act according to the substituted judgment standard. However, if it is not survival that is at stake, but conservation of reproduction and the potential side effects are significant, the decision-making process becomes much more difficult. Legal issues associated with possible harm to the patient on the one hand and ethical issues with presumable benefit of the intervention on the other hand give rise to difficult decisions.
Case presentation:
We present the case of a 24-year-old patient with Goodpasture syndrome. Because of rapid aggravation of kidney function and alveolar hemorrhage-the latter requiring an urgent initiation of mechanical ventilation-therapy with steroids, plasmapheresis, and cyclophosphamide was immediately required. Knowledge of the negative impact on fertility brought up the question about sperm cryopreservation. According to the substituted judgment standard, together with the mother of the patient and based on interdisciplinary evaluation of the situation with specialists from the reproductive endocrinology and urology department, the decision for a testicular sperm extraction in the absence of the possibility to obtain the patient's informed consent was made. Immediate chemotherapy was initiated and continued after the procedure. The patient recovered from the acute illness and was informed retrospectively about the testicular sperm extraction, which he received extremely positively.
Conclusion:
Our aim is to highlight the legal objectives and ethical aspects of a non-lifesaving but fertility-preserving intervention in an unconscious patient. The need for decision-making in this kind of situation is rare and therefore challenging. The present case may serve to encourage and guide other doctors in similar situations.
Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism
Authors: Suzanne I M Alsters, Anthony P Goldstone, Jessica L Buxton, Anna Zekavati, Alona Sosinsky, Andrianos M Yiorkas, Susan Holder, Robert E Klaber, Nicola Bridges, Mieke M van Haelst, Carel W le Roux, Andrew J Walley, Robin G Walters, Michael Mueller, Alexandra I F Blakemore
Journal: PLoS One (2015)
MeSH terms: Carboxypeptidase H / genetics, Diabetes Mellitus, Type 2 / complications, Intellectual Disability / complications, Klinefelter Syndrome / complications, Mutation / genetics, Obesity, Morbid / complications, Obesity, Morbid / genetics, Case Reports, Research Support, Non-U.S. Gov't, Carboxypeptidase H / metabolism, DNA Mutational Analysis, Diabetes Mellitus, Type 2 / enzymology, Diabetes Mellitus, Type 2 / genetics, Exome / genetics, Female, Gene Expression Regulation, Enzymologic, Homozygote, Humans, Intellectual Disability / genetics, Klinefelter Syndrome / enzymology, Klinefelter Syndrome / genetics, Male, Obesity, Morbid / enzymology, Pedigree, RNA, Messenger / genetics, RNA, Messenger / metabolism, Young Adult, RNA, Messenger, Carboxypeptidase H

Carboxypeptidase E is a peptide processing enzyme, involved in cleaving numerous peptide precursors, including neuropeptides and hormones involved in appetite control and glucose metabolism. Exome sequencing of a morbidly obese female from a consanguineous family revealed homozygosity for a truncating mutation of the CPE gene (c.76_98del; p.E26RfsX68). Analysis detected no CPE expression in whole blood-derived RNA from the proband, consistent with nonsense-mediated decay. The morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism seen in this individual recapitulates phenotypes in the previously described fat/fat and Cpe knockout mouse models, evidencing the importance of this peptide/hormone-processing enzyme in regulating body weight, metabolism, and brain and reproductive function in humans.
Antiphospholipid antibody syndrome with thrombotic splenic infarcts associated with acute cytomegalovirus infection
Authors: Christopher Denham, Ginger Tissier, Amit Golding
Journal: Access Microbiol (2019)
Keywords: acute cmv infection, anti-coagulation, antiphospholipid antibodies, antiphospholipid antibody syndrome, thrombosis
MeSH terms: Case Reports

Introduction:
We describe a case of acute cytomegalovirus (CMV) infection complicated by acquired antiphospholipid antibodies and splenic thrombi. We discuss the associations between CMV infection and thrombosis risk and correlation with antiphospolipid antibodies.
Case presentation:
A previously healthy 32-year-old woman is hospitalized for acute abdominal pain and fever and found to have multiple splenic infarcts on an abdominal computed tomography (CT) scan. An infectious work-up is negative except for acute CMV, and a hypercoagulable work-up is only positive for antiphospholipid antibodies. The patient is discharged and placed on anti-coagulation therapy for 6 months.
Conclusion:
Co-incident thrombosis and antiphospholipid antibody syndrome can occur with acute viral infections, including CMV. We discuss the viral infection-associated increased risk of developing blood clots and antiphospholipid antibodies as being either correlative with or causative of viral-induced thrombosis.
Enucleation in a Cownose Ray (Rhinoptera bonasus)
Authors: A Abraham Gabriel, S T Yee-Nin, Lawan Adamu, H M D Hassan, A H Wahid
Journal: Case Rep Vet Med (2018)
MeSH terms: Case Reports

Trauma is a common problem in Cownose Ray during mating season in both wild and captive rays. Enucleation is indicated when there is an ocular trauma. A 5-year-old female Cownose Ray (Rhinoptera bonasus) from Aquaria of Kuala Lumpur Convention Centre (KLCC) was presented to University Veterinary Hospital (UVH), Universiti Putra Malaysia, with a complaint of protruding left eye, which resulted from crushing into artificial coral during mating season. There were a hyphema in the traumatic left eye, periorbital tissue tear, exposed left eye socket, and multiple abrasions on both pectoral fins. The Cownose was anaesthetized and maintained with isoeugenol and on-field emergency enucleation of the left eye was performed. It was managed medically with postoperative enrofloxacin, tobramycin ointment, and povidone iodine. No suture breakdown and secondary infection were observed at day 7 after enucleation during revisit. At day 24 after enucleation, the Cownose responded well to treatment with excellent healing progression and no surgical complication was observed.
Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation
Authors: Kay Tanita, Akihiro Hoshino, Ken-Ichi Imadome, Takahiro Kamiya, Kento Inoue, Tsubasa Okano, Tzu-Wen Yeh, Masakatsu Yanagimachi, Akira Shiraishi, Masataka Ishimura, Tilmann Schober, Meino Rohlfs, Masatoshi Takagi, Kohsuke Imai, Hidetoshi Takada, Shouichi Ohga, Christoph Klein, Tomohiro Morio, Hirokazu Kanegane
Journal: Front Pediatr (2019)
Keywords: il2rg, jak/stat pathway, chronic active epstein-barr virus infection, common γ chain, γδt-cell
MeSH terms: Case Reports

Chronic active Epstein-Barr virus (EBV) infection (CAEBV) is an EBV-associated lymphoproliferative disease characterized by repeated or sustainable infectious mononucleosis (IM)-like symptoms. EBV is usually detected in B cells in patients who have IM or Burkitt's lymphoma and even in patients with X-linked lymphoproliferative syndrome, which is confirmed to have vulnerability to EBV infection. In contrast, EBV infects T cells (CD4+ T, CD8+ T, and γδT) or NK cells mono- or oligoclonally in CAEBV patients. It is known that the CAEBV phenotypes differ depending on which cells are infected with EBV. CAEBV is postulated to be associated with a genetic immunological abnormality, although its cause remains undefined. Here we describe a case of EBV-related γδT-cell proliferation with underlying hypomorphic IL2RG mutation. The immunological phenotype consisted of γδT-cell proliferation in the peripheral blood. A presence of EBV-infected B cells and γδT cells mimicked γδT-cell-type CAEBV. Although the patient had normal expression of CD132 (common γ chain), the phosphorylation of STAT was partially defective, indicating impaired activation of the downstream signal of the JAK/STAT pathway. Although the patient was not diagnosed as having CAEBV, this observation shows that CAEBV might be associated with immunological abnormality.
Superior Mesenteric Artery Syndrome: A Case Report of Two Surgical Options, Duodenal Derotation and Duodenojejunostomy
Authors: Yagan Pillay
Journal: Case Rep Vasc Med (2016)
MeSH terms: Case Reports

Superior mesenteric artery (SMA) syndrome is a rare cause of duodenal obstruction and its management is usually conservative with nasojejunal feeding. The pathophysiology entails the loss of the fat pad between the superior mesenteric artery and the abdominal aorta. This reduces the angle between the two vessels to less than 20 degrees with the resultant compression of the third part of the duodenum. The surgical management is usually a laparoscopic duodenojejunostomy. The two cases in our series had two different surgical procedures with good outcomes in both patients. The surgical management of each patient should be determined on its own merits irrespective of the standard of care.
Hypertensive Crisis in Pregnancy with COVID19: Confirmed with rt-PCR for Nasopharyngeal Swab
Authors: Sajith Bandara, Anura Ruwanpathirana, Dhammika Nagodawithana, Samantha Alwis
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

The novel coronavirus has already spread across the geographical borders to 213 countries and self-governing territories. However, the effect of SARS-CoV-2 infection on pregnant mothers is still poorly understood and sparsely documented. Here, we present a case of a primi mother, who presented with diarrheal episode and proceeded to a hypertensive crisis and placental abruption with rt-PCR (nasopharyngeal swab) confirmed for COVID19. SARS-CoV-2 enters and downregulates host cell-bounded enzyme ACE2 (angiotensin-converting enzyme). This activates the renin angiotensin aldosterone mechanism (RAAM). The activation of RAAM plays a pivotal role in the pathophysiology of hypertensive emergencies. Hence, there is a theoretical possibility of hypertensive crisis associated with ACE2/RAAM dysfunction in pregnant mothers who have COVID19. Therefore, close monitoring of blood pressure and early intervention are of paramount importance in anticipating and preventing serious complications related to hypertension in pregnancy in mothers who have tested positive for SARS-CoV-2, especially in this pandemic situation. Emergency hospital admission and urgent care must be afforded to mothers presenting with high blood pressure with the features suggestive of COVID19 as they are at a risk of rapid deterioration.
Case Report: Multifocal EBV-Associated Diffuse Large B-Cell Lymphoma in a Patient With 6-MP Associated Lymphopenia With TPMT Deficiency
Authors: Lara Müller-Scholden, Frank Deinlein, Matthias Eyrich, Paul Gerhardt Schlegel, Verena Wiegering, Matthias Wölfl
Journal: Front Pediatr (2022)
Keywords: ebv, ptld, tpmt deficiency, lymphoma, maintenance therapy
MeSH terms: Case Reports

Introduction:
EBV associated lymphoproliferative disorders (EBV LPD) are a known complication following solid organ or hematopoietic stem cell transplantation. The disturbance of the immune system leads to a lack of control of latent EBV-infected B-cells, as control by T-cells is mandatory to prevent uninhibited cell proliferation. EBV LPD in other settings is less frequent and etiology and pathogenesis are not completely understood.
Case presentation:
We present the case of an 18-year old adolescent suffering from lymphoblastic T-cell lymphoma who developed a life-threatening EBV associated B-cell lymphoma while he was under therapy with 6-MP (6- mercaptopurine). An underlying homozygous TPMT (thiopurine S-methyltransferase) deficiency with subsequent insufficient degradation of 6-MP was identified as contributory for the development of a distinct lymphopenia leading to EBV LPD. The patient was successfully treated by discontinuation of 6-MP and initiating rituximab monotherapy.
Discussion:
Rare cases of EBV LPD during therapy with 6-MP are reported in patients with leukemia, but no data about TPMT pharmacogenomics are available. In contrast the disease development in the presented case may be explained by the iatrogenic immunosuppression in the context of TPMT deficiency. While using 6-MP testing of genetic variations is not required for every protocol, although the use of thiopurines in patients with TPMT deficiency can cause severe immunosuppression. Our case suggests that insufficient degradation of 6-MP can have significant consequences despite dose reduction.
Conclusion:
When using thiopurines, TPMT genetics should be initiated and strict drug monitoring and dose adjusting must be performed by a specialized center.
Childhood Laryngeal Dystonia Following Bilateral Globus Pallidus Abnormality: A Case Study and Review of Literature
Authors: Mohammad Javad Saeedi Borujeni, Ebrahim Esfandiary, Mostafa Almasi-Dooghaee
Journal: Iran J Otorhinolaryngol (2017)
Keywords: basal ganglia, globus pallidus, laryngeal dystonia
MeSH terms: Case Reports

Introduction:
Dystonia is a disorder of movement caused by various etiologies. Laryngeal dystonia is caused by the spasm of laryngeal muscles. It is a disorder caused by vocal fold movement in which excessive adduction or abduction of the vocal folds occurs during speech. The pathophysiology of this type of dystonia is not fully known. Some researchers have suggested that basal ganglia structures and their connections with cortical areas have been involved in the pathogenesis of dystonia.
Case report:
In this paper a 7.5-year-old boy suffering from laryngeal dystonia with bilateral lesions in Globus Pallidus is presented. The patient also suffered from swallowing problems, monotone voice, vocal tremor, hypersensitivity of gag reflex, and stuttering. Drug treatment failed to cure him; therefore, he was referred to rehabilitation therapy.
Conclusion:
In conclusion, special attention should be brought upon laryngeal dystonia, especially in patients showing Extra-pyramidal symptoms and/or abnormalities of the basal ganglia. In children, laryngeal dystonia may be potentially fatal. Lack of consideration for this condition during rehabilitation therapy can lead to serious consequences for a child.
Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia
Authors: Rima Koka, Najeebah A Bade, Edward A Sausville, Yi Ning, Ying Zou
Journal: Mol Cytogenet (2017)
Keywords: bcr/abl, derivative chromosome 9, gene amplification, isodicentric chromosome 22, t-lymphoblastic leukemia
MeSH terms: Case Reports

Background:
ABL1 gene translocations can be seen in precursor T-acute lymphoblastic leukemia (T-ALL). The typical translocation partner is the NUP214 gene. BCR-ABL translocations are relatively rare in this entity. Furthermore, while there have been unique patterns of amplification noted among the NUP214-ABL fusion genes, there have been few such reports among cases with BCR-ABL fusion genes.
Case presentation:
Here we report a unique case of a 44-year old patient with T-ALL in which the blasts demonstrated a derivative chromosome 9 involving a 9;22 translocation and a dicentric Philadelphia chromosome 22 with a homogeneously staining region at the interface of the 9;22 translocation, leading to BCR-ABL1 gene amplification. Fluorescence in-situ hybridization (FISH) showed abnormal BCR/ABL1 fusions with the BCR-ABL1 gene amplification in 48% of the interphase cells analyzed. The translocation was confirmed by SNP array.
Conclusions:
We present a novel derivative chromosome 9 that shows BCR-ABL gene fusion along with a dicentric Philadelphia chromosome 22 with BCR-ABL1 gene amplification. This is a unique pattern of BCR-ABL fusion which has never been described in T-ALL. It is significant that the patient responded to standard treatment with the CALGB 10403 protocol and supplementation with a tyrosine kinase inhibitor. Identification of additional patients with this pattern of BCR-ABL fusion will allow for enhanced risk assessment and prognostication.
Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome
Authors: J Elliott Robinson, Stephanie M Wolfe, Kathleen Kaiser-Rogers, Robert S Greenwood
Journal: Front Neurol (2016)
Keywords: 1q43q44 deletion, cox20, fam36a, hemiconvulsion–hemiparesis–epilepsy, mitochondrial
MeSH terms: Case Reports

Hemiconvulsion-hemiplegia-epilepsy syndrome (HHE) is a rare outcome of prolonged hemiconvulsion that is followed by diffuse unilateral hemispheric edema, hemiplegia, and ultimately hemiatrophy of the affected hemisphere and epilepsy. Here, we describe the case of a 3-year-old male with a 1;3 translocation leading to a terminal 1q43q44 deletion and a terminal 3p26.1p26.3 duplication that developed HHE after a prolonged febrile seizure and discuss the pathogenesis of HHE in the context of the patient's complex genetic background.
Challenges of Pediatric Cataract Surgery in a Case of Seasonal Hyperacute Panuveitis (SHAPU)
Authors: Pratap Karki, Ranju Kharel Sitaula, Anadi Khatri, Sagun Narayan Joshi, Haramaya Gurung, Indraman Maharjan, Ananda Kumar Sharma, Madan Prasad Upadhaya
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

A four-year-old female child diagnosed as a case of severe Seasonal Hyperacute Panuveitis (SHAPU) underwent lens-sparing core vitrectomy in her left eye with intravitreal antibiotic and steroid. Patient responded well to treatment and intraocular inflammation subsided. However, three months later, she developed vision impairing dense cataract which also made posterior segment assessment difficult. Lens aspiration with primary posterior capsulotomy and anterior vitrectomy with intraocular lens (IOL) implantation was performed. However, four weeks later, the patient developed occlusio pupillae with iris bombe. She did not respond to medical management so synechiolysis with surgical iridectomy was performed after which a normal depth anterior chamber was attained. Synechia and iris bombe were also relieved, and vision was regained.
A Rare Cause of Nasal Obstruction: Metastatic Renal Cell Carcinoma
Authors: Tuba Dilay Kokenek-Unal, B Gumuskaya, B Ocal, Murat Alper
Journal: Case Rep Pathol (2016)

Introduction. Renal cell carcinoma can present with several interesting symptoms, paraneoplastic syndromes, and unusual metastatic sites. Head and neck region is one of the rare locations for renal cell carcinoma metastasis. Case Report. A 50-year-old man was admitted to the hospital with nasal congestion and snoring. Physical examination revealed nasal serous secretion. First taken biopsy was misinterpreted. The symptoms of the patient were not revealed and he was readmitted to the hospital. On radiologic examination, a vascular rich mass in maxillary sinus extending to the nasal cavity was observed. Biopsy was diagnosed as renal cell carcinoma metastasis. Herein, we present a patient with renal cell carcinoma presenting nasal obstruction and snoring as first and recurrent symptom.
Prolonged Postoperative Vasoplegia in Pediatric Patients on Chronic Angiotensin II Blocker Treatment
Authors: Nischal R Pandya, Nelson Alphonso, Quyen Tu, Prem Venugopal, Luregn J Schlapbach
Journal: Front Cardiovasc Med (2018)
Keywords: angiotensin blocker, antihypertensive, cardiac surgery, pediatric, vasoplegia
MeSH terms: Case Reports

Prolonged postoperative vasoplegia is known to occur following cardiac surgery in patients on chronic angiotensin II receptor blocker (ARB) treatment in adults. The perioperative management of these drugs in the pediatric population is not well described and here we would like to highlight this fact. While ARBs are increasingly used in children and adolescents with hypertension, there is lack of data to guide optimal pre-surgical management in the pediatric age group. We report two cases of prolonged vasoplegia following cardiopulmonary bypass occurring in adolescent patients on chronic ARB therapy and the importance of cessation of these drugs preoperatively.
Nonconvulsive Status Epilepticus Resembling Clinical Absence with Atypical EEG Pattern
Authors: Channaiah Srikanth Mysore, Najib Murr, Rana Zabad, John Bertoni
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Objective. We are reporting two cases: a patient with steroid responsive encephalopathy associated with autoimmune thyroiditis (SREAT) and another patient with secondary progressive multiple sclerosis (SPMS), both presenting with altered mental status (AMS) and later diagnosed with nonconvulsive atypical absence status epilepticus (AS), with atypical EEG changes. Methods. A report of two cases. Results. A patient with history of SREAT and the other with SPMS had multiple admissions due to AMS. For both, EEG revealed the presence of a high voltage generalized sharply contoured theta activity. A diagnosis of NCSE with clinical features of AS was made based on both clinical and EEG features. There was significant clinical and electrographic improvement with administration of levetiracetam for both patients in addition to sodium valproate and Solumedrol for the SREAT patient. Both patients continued to be seizure free on follow-up few months later. Conclusions. This is a report of two cases of atypical AS, with atypical EEG, in patients with different neurological conditions. Prompt clinical and EEG recovery occurred following appropriate medical treatment. We think that this condition might be underreported and could significantly benefit from prompt treatment when appropriately diagnosed.