OpenMed/multicare-articles huggingface dataset:
Ventilation failure after endotracheal intubation in an infant with abdominal compartment syndrome: A case report
Authors: Yifan Fu, Zhen Luo
Journal: Clin Case Rep (2024)
Keywords: anesthesia, general, compartment syndromes, decompression, surgical, hypoventilation, infant, intra‐abdominal hypertension, pediatric emergency medicine
MeSH terms: Case Reports

Intra-abdominal hypertension and abdominal compartment syndrome (ACS) are distinct clinical stages of pathology caused by increased intra-abdominal pressure, which may lead to respiratory and circulatory dysfunction in children and is associated with high pediatric mortality. An emergency exploratory laparotomy was planned for an infant with ACS. After induction of anesthesia and endotracheal intubation, the patient developed ventilation failure and any management was ineffective. Ventilation was resumed after a race against time abdominal decompression by the surgical team. Abdominal decompression is the primary treatment to relieve respiratory and circulatory failure in children with ACS.
Penetrating Posterior Urethral Injuries: Case Report and Management Strategies
Authors: Seyed Sajjad Tabei, Brandon Lippold, Wesley Baas, Gregory Murphy
Journal: Case Rep Urol (2024)
Keywords: gunshot wound, penetrating wounds, posterior urethra, urethral diseases, urotrauma
MeSH terms: Case Reports

Penetrating posterior urethral trauma from gunshot wounds (GSW) is rare and requires prompt treatment to minimize complications. Data regarding the management of such cases is scarce in the literature and poorly addressed in the guidelines. Different management approaches exist, including urinary diversion with immediate versus delayed urethroplasty/fistula repair. We present our case series to add to our experience to the literature. Three patients aged 18-44 presented with ballistic posterior urethra injuries from GSW. Initial management involved urethral catheter placement, with one patient requiring operative placement of urethral and suprapubic catheters (SPTs). Complications included recurrent membranous stricture, urinary retention, rectourethral fistula, and erectile dysfunction (ED). Posterior urethral injuries from GSW are complex as they can be either isolated or affect adjacent organs. Bladder, ureteral, and urethral injuries must be ruled out. Unlike bladder neck injuries, immediate urethroplasty/fistula repair would be very challenging and not advised for standard prostatic or membranous injuries. Urethral catheter or suprapubic tube is recommended and can result in fistula closure and urethral patency. It is critical to maintain close follow-up with the patient due to the possibility of stricture recurrence. Urethroplasty in a delayed fashion can be very successful.
Congenital Long QT Syndrome (LQTS) in Infancy: A Challenging Case
Authors: Mohammed Aldirawi, Rehab Musa, Moataz Hamdi, Lemis Yavuz
Journal: Cureus (2024)
Keywords: brief resolved unexplained events, cardiac arrythmia, congenital long qt syndrome, sudden early death, unexplained syncope
MeSH terms: Case Reports

Long QT syndrome (LQTS), is an arrhythmia disorder, related to ventricular myocardial repolarization characterized by a prolonged QT interval on the electrocardiogram that can lead to symptomatic ventricular arrhythmias and increase the mortality rate. The prevalence of congenital LQTS is about 1 in 2000 live births. Here, we report the case of a two-month-old female, with a significant family history of early death, who was brought to our emergency with an episode of blueish discoloration. The initial workup was positive for COVID-19 in the respiratory panel, so she was admitted as a case of bronchiolitis. It was a challenge because of the overlapping presentation between a serious condition and other common pediatric illnesses. Furthermore, the paper aims to increase awareness of this condition among physicians and emphasizes the importance of obtaining a complete medical history, physical examination, and family screening in selected cases to facilitate early diagnosis and timely management.
Resolution of Wing-Beating Tremor and Magnetic Resonance Imaging Lesions in Wilson's Disease Following Penicillamine
Authors: Igor Vilela Brum, Jacy Bezerra Parmera, Rafael Tomio Vicentini Otani, Izaely Ramos Prates, Leandro Tavares Lucato, Rubens Gisbert Cury, Egberto Reis Barbosa
Journal: Tremor Other Hyperkinet Mov (N Y) (2024)
Keywords: hepatolenticular degeneration, penicillamine, tremor
MeSH terms: Hepatolenticular Degeneration / diagnostic imaging, Hepatolenticular Degeneration / drug therapy, Penicillamine / therapeutic use, Case Reports, Video-Audio Media, Copper / pharmacology, Humans, Magnetic Resonance Imaging, Tremor / diagnostic imaging, Tremor / drug therapy, Tremor / etiology, Copper, Penicillamine

Background:
The wing-beating tremor, characteristic of Wilson's disease (WD), is a disabling symptom that can be resistant to anti-copper and anti-tremor medications.
Phenomenology shown:
This video illustrates severe bilateral wing-beating tremor, moderate head and lower limb tremors, mild cervical dystonia, and subtle cerebellar ataxia, with nearly resolution after penicillamine treatment.
Educational value:
This case highlights a typical aspect of WD, emphasizing the importance of early detection and treatment, and its correlation with MRI findings.
Highlights:
This case highlights the typical wing-beating tremor in Wilson's disease and its correlation with the involvement of the dentato-rubro-thalamic pathway. The early diagnosis and initiation of treatment with penicillamine resulted in an excellent clinical and radiological response.
Chronic hepatitis E virus-induced spinal cord atrophy in a patient with chronic lymphatic leukemia: a case report and interdisciplinary management proposal
Authors: Marvin Ritter, Olaposi Yomade, Ben-Ole Holtz, Stefanie Deinhardt-Emmer, Aaron Lawson McLean, Stefanie Hartinger, Julia Bechwar, Matthias Schwab, André Huss, Christian Mawrin, Hubertus Axer, Karin G Schrenk, Philipp A Reuken, Irina Mäurer
Journal: Front Immunol (2024)
Keywords: hev, cancer, lymphoma, neurofilaments, neuroinflammation, neurological symptoms
MeSH terms: Atrophy, Hepatitis E / complications, Hepatitis E / drug therapy, Hepatitis E / immunology, Leukemia, Lymphocytic, Chronic, B-Cell / complications, Leukemia, Lymphocytic, Chronic, B-Cell / drug therapy, Case Reports, Antibodies, Monoclonal, Humanized, Antiviral Agents / therapeutic use, Chronic Disease, Hepatitis E virus / immunology, Humans, Immunocompromised Host, Male, Middle Aged, Spinal Cord / pathology, Antiviral Agents, obinutuzumab, Antibodies, Monoclonal, Humanized

Background:
The hepatitis E virus (HEV) can cause acute viral hepatitis with or without neurological manifestations, and occasionally progresses to chronic infection in immunocompromised individuals. The management of chronic HEV infection in cancer patients may be challenging due to the complex immunological constellation. Furthermore, the diagnostic workflow and the impact on quality of life of neurological HEV manifestations in immunocompromised patients have not been sufficiently delineated previously.
Case description:
A 61-year-old male with systemically treated chronic lymphocytic leukemia (CLL) experienced a slowly progressive atrophy of the spinal cord due to a chronic HEV infection. Despite continuous antiviral treatment with ribavirin, the patient's neurological condition continued to deteriorate, particularly following subsequent attempts to treat CLL. Treatment with obinutuzumab resulted in acute bowel and urinary retention and a further deterioration of motor skills, prompting the discontinuation of obinutuzumab. The patient's neurological status improved after the administration of intravenous immunoglobulins.
Conclusion:
This case study provides a comprehensive long-term follow-up of a cancer patient with chronic HEV infection and associated CNS involvement, which resulted in progressive neurological disability over several years. The challenges faced in diagnosing new neurological symptoms in patients undergoing immunosuppressive cancer treatment underscore the need for an interdisciplinary diagnostic approach that includes HEV testing. We propose a diagnostic pathway for future validation in immunocompromised cohorts presenting with neurological symptoms, emphasizing its potential to enhance clinical outcomes.
Acute calcareous corneal degeneration in a patient with chronic graft-versus-host disease
Authors: Marta Gema Solaz Ruiz, Lorena Azorín Pérez, Carlos Cauto Picazo, Laura Sánchez Sanz, Ana Hervás Ontiveros, Enrique España Gregori
Journal: Rom J Ophthalmol (2024)
Keywords: calcareous corneal degeneration, calcium deposition, chronic graft-versus-host disease, corneal perforation, keratoconjunctivitis sicca
MeSH terms: Bronchiolitis Obliterans Syndrome, Corneal Dystrophies, Hereditary, Keratoconjunctivitis Sicca, Review, Case Reports, Cornea, Humans, Inflammation, Keratoplasty, Penetrating

Objective: To describe acute calcareous corneal degeneration as a complication of chronic graft-versus-host disease. Materials and methods: Clinical case and review of the literature. Results: We presented a case of bilateral acute calcareous corneal degeneration in a patient with chronic graft-versus-host disease. Conclusions: Chronic graft-versus-host disease (cGVHD) occurs in 50-70% of bone marrow transplantation patients, the most frequent ocular complication being keratoconjunctivitis sicca (KCS). Calcareous corneal degeneration is a type of calcium deposition that can be secondary to chronic ocular inflammation or dry eye, but there are few cases reported of acute calcareous corneal degeneration and recurrent perforation in cGVHD. Abbreviations: GVHD = Chronic graft-versus-host disease, aGVHD = Acute graft-versus-host disease, cGVHD = Chronic graft-versus-host disease, KCS = Keratoconjunctivitis sicca, PKP = Penetrating keratoplasty, AMT = Amniotic membrane transplantation, PRGF = Plasma rich in growth factors, OD = Right eye, OS = Left eye.
Ovarian cyst torsion in a pre-menopausal woman causing intestinal obstruction: a case report
Authors: Vasiliki-Kalouda Tsapadikou, Konstantinos Zacharis, Asimina-Paraskevi Barbarousi, Spyridon Chondros, Stavros Kravvaritis, Anastasia Fouka, Theodoros Charitos
Journal: Pan Afr Med J (2023)
Keywords: intestinal obstruction, case report, ovarian cyst, torsion
MeSH terms: Intestinal Obstruction / etiology, Intestinal Obstruction / surgery, Ovarian Cysts / complications, Ovarian Cysts / diagnosis, Ovarian Cysts / surgery, Case Reports, Abdominal Pain / etiology, Diagnosis, Differential, Female, Humans, Ovarian Torsion, Premenopause

Intestinal obstruction due to adnexal torsion is a rare complication that can be occurred during torsion of an ovarian cyst. A premenopausal woman presented to the emergency department with complaints of abdominal distension, abdominal pain, and obstipation for 2 days. An abdominal radiograph showed signs of large bowel partial obstruction. Hence admission to the surgical department was ordered. Due to deterioration of the patient, a gynaecological evaluation took place. Ultrasonography demonstrated a large ovarian cyst, which was also confirmed by an abdominal computed tomography scan and thus immediate laparotomy was decided. Abdominal hysterectomy with bilateral salpingo-oophorectomy was performed due to torsion of a giant ovarian cyst, which caused intestinal obstruction by compression. The post-operative course of the patient was uneventful. Ovarian torsion should not be eliminated from differential diagnosis when it comes to female patients with clinical presentation relevant to small and/or large bowel obstruction.
Successful treatment with tislelizumab plus chemotherapy for SMARCA4-deficient undifferentiated tumor: a case report
Authors: Wen Dong, Anli Dai, Zhijun Wu, Jiangtao Wang, Tao Wu, Yangfeng Du, Wei Tian, Jiang Zheng, Yan Zhang, Hongming Wang, Juan Cai, Susu Dong, Yan Zhou, Siyan Li, Zemin Xiao
Journal: Front Immunol (2024)
Keywords: anti-pd-1 antibody, smarca4-dut, chemotherapy, immune therapy, tislelizumab
MeSH terms: Antibodies, Monoclonal, Humanized / administration & dosage, Antibodies, Monoclonal, Humanized / therapeutic use, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, DNA Helicases / deficiency, DNA Helicases / genetics, Transcription Factors / genetics, Case Reports, Cisplatin / administration & dosage, Cisplatin / therapeutic use, Etoposide / administration & dosage, Etoposide / therapeutic use, Female, Humans, Male, Nuclear Proteins / deficiency, Nuclear Proteins / genetics, Treatment Outcome, Antibodies, Monoclonal, Humanized, SMARCA4 protein, human, DNA Helicases, tislelizumab, Transcription Factors, Nuclear Proteins, Etoposide, Cisplatin

SMARCA4-deficient undifferentiated tumor (SMARCA4-dUT) is a devastating subtype of thoracic tumor with SMARCA4 inactivation and is characterized by rapid progression, poor prognosis, and high risk of postoperative recurrence. However, effective treatments for SMARCA4-dUT are lacking. Herein, we describe a patient with SMARCA4-dUT who exhibited an impressive response to the anti-programmed cell death protein-1 (PD-1) antibody (tislelizumab) in combination with conventional chemotherapy (etoposide and cisplatin). To the best of our knowledge, this is the first case of SMARCA4-dUT treated with chemotherapy, comprising etoposide and cisplatin, combined with anti-PD-1 inhibitors. Immunotherapy combined with etoposide and cisplatin may be a promising strategy to treat SMARCA4-dUT.
FROM LEFT TO RIGHT. PARA-AORTIC LYMPH NODES SAMPLING DURING PANCREATODUODENECTOMY FOR PANCREATIC CANCER
Authors: Gabrielle Stevenin, Clémence Guyard, Renato Micelli Lupinacci
Journal: Arq Bras Cir Dig (2023)
MeSH terms: Adenocarcinoma / pathology, Adenocarcinoma / surgery, Pancreatic Neoplasms / pathology, Pancreatic Neoplasms / surgery, Case Reports, Aged, Female, Humans, Lymph Node Excision / methods, Lymph Nodes / pathology, Pancreaticoduodenectomy / methods

Background:
Para-aortic lymph nodes involvement in pancreatic head cancer has been described as an independent adverse prognostic factor. To avoid futile pancreatic resection, we systematically perform para-aortic lymphadenectomy as a first step.
Aims:
To describe our technique for para-aortic lymphadenectomy.
Methods:
A 77-year-old female patient, with jaundice and resectable pancreatic head adenocarcinoma, underwent pancreaticoduodenectomy associated with infracolic lymphadenectomy.
Results:
The infracolic anterior technique has two main advantages. It is faster and prevents the formation of postoperative adhesions, which can make subsequent surgical interventions more difficult.
Conclusions:
We recommend systematic para-aortic lymphadenectomy as the first step of pancreaticoduodenectomy for pancreatic head adenocarcinoma by this approach.
Case report: Intraabdominal infection of Mycobacterium syngnathidarum in an immunocompetent patient confirmed by whole-genome sequencing
Authors: Hu Ge, Xiongwei Liang, Qiuran Lu, Aixiang He, Peiwen Zhong, Jun Liu, Yan Yu, Honglian Song
Journal: Front Med (Lausanne) (2023)
Keywords: mycobacterium syngnathidarum, intraabdominal infection, non-tuberculous mycobacteria, pathogen diagnosis, whole-genome sequencing
MeSH terms: Case Reports

Background:
The taxonomic group of non-tuberculous mycobacteria (NTM) encompasses more than 190 species and subspecies, some of which can cause pulmonary and extrapulmonary diseases across various age groups in humans. However, different subspecies exhibit differential drug sensitivities, and traditional detection techniques struggle to accurately classify NTM. Therefore, clinicians need more effective detection methods to identify NTM subtypes, thus providing personalized medication for patients.
Case presentation:
We present the case of a 47-year-old female patient diagnosed with an intraabdominal infection caused by Mycobacterium syngnathidarum. Despite computed tomography of the chest suggesting potential tuberculosis, tuberculosis infection was ruled out due to negative TB-DNA results for ascites fluid and sputum and limited improvement of lung lesions after treatment. Additionally, acid-fast staining and Lowenstein-Jensen culture results revealed the presence of mycobacterium in ascites fluid. Subsequent whole-genome sequencing (WGS) confirmed the DNA sequences of Mycobacterium syngnathidarum in colonies isolated from the ascites fluid, which was further corroborated by polymerase chain reaction and Sanger sequencing. Ultimately, the patient achieved a complete recovery following the treatment regimen targeting Mycobacterium syngnathidarum, which involved clarithromycin, ethambutol hydrochloride, pyrazinamide, rifampicin, and isoniazid.
Conclusion:
This is the first reported case of Mycobacterium syngnathidarum infection in humans. Mycobacterium syngnathidarum was detected by WGS in this case, suggesting that WGS may serve as a high-resolution assay for the diagnosis of different subtypes of mycobacterium infection.
Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins
Authors: Daniela Telehuz, Oana Plesa, Florence Bouilloud, Helene Wucher, Pascale De Lonlay, Claire-Marine Bérat, Cécile Saint-Martin, Olivier Dupuy, Jean-Baptiste Arnoux
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: abcc8, compound heterotozygosity, congenital hyperinsulinaemic hypoglycaemia, congenital hyperinsulinism (chi), diazoxide-unresponsive, pasireotide
MeSH terms: Congenital Hyperinsulinism / drug therapy, Congenital Hyperinsulinism / genetics, Case Reports, Adult, Female, Humans, Infant, Newborn, Male, Pregnancy, Sulfonylurea Receptors / genetics, Twins, Dizygotic / genetics, ABCC8 protein, human, Sulfonylurea Receptors

We present the case of a 36-year-old female who was diagnosed at birth with CHI that caused severe hypoglycaemia unresponsive to Diazoxide. Subtotal pancreatectomy was performed at the age of three weeks. Later, histological analysis of her pancreas in a research setting revealed a focal form of CHI. Genetic testing was not available at that time. The patient developed pancreatic exocrine deficiency and insulin-dependent diabetes at the age of 9 years. In 2016, a genetic test revealed a missense heterozygous variant in the ABCC8 gene inherited from her father and classified as having a recessive inheritance. The geneticist concluded that the risk of CHI for her offspring would be low (1/600), making pregnancy favourable. As there was no consanguinity in the family, testing the future father was deemed unnecessary (carrier frequency 1/150 in the general population). The pregnancy occurred spontaneously in 2020 and at a gestational age of 28 weeks, the mother went into premature labour. An emergency C-section was performed in April 2021 resulting in the birth of bichorial bi-amniotic male twins. Following birth, both newborns experienced persistent severe hypoglycaemia which required glucagon treatment and intravenous glucose infusion initially, followed by Diazoxide from day 51 after birth, without satisfactory response. Continuous intravenous Octreotide treatment was introduced on day 72. Due to the recurrence of hypoglycaemia episodes despite reaching maximum doses of Octreotide, from day 92 the treatment was switched to Pasireotide. Genetic tests revealed the same genotypes for both infants: the exon 39 missense variant (c.4716C>A; p.Ser1572Arg) inherited from their mother and a truncating variant in exon 28 (c.3550del; p.Val1184*), inherited from their asymptomatic father. As a result of inheriting two recessive variants of the ABCC8 gene, the children were diagnosed with a diffuse form of CHI, consistent with the diazoxide-unresponsive presentation. This situation is very rare outside consanguinity. This case emphasises the significance of genetic counselling for individuals with a history of rare diseases outside the context of consanguinity, as there is a potential risk of recurrence. Prenatal diagnosis can lead to better outcomes for affected neonates, as well as help families make informed decisions about future pregnancies.
Simultaneous resection of pituitary adenoma and clipping of aneurysm through endoscopic endonasal approach: a case report
Authors: Wenbo He, Chongxi Xu, Datong Zheng, Danyang Jie, Jianguo Xu, Songping Zheng
Journal: Front Oncol (2024)
Keywords: clipping, endoscopic endonasal approach, intracranial aneurysm, pituitary adenoma, surgical technique
MeSH terms: Case Reports

Pituitary adenomas and intracranial aneurysms are prevalent neurosurgical conditions, but their simultaneous presence is uncommon, affecting only 0.5%-7.4% of those with pituitary adenomas. The strategy of treating aneurysms endovascularly before removing pituitary adenomas is widely adopted, yet reports on addressing both conditions at once through an endoscopic endonasal approach (EEA) are scarce. We present a case involving a pituitary adenoma coupled with an anterior communicating artery aneurysm. Utilizing the EEA, we excised the adenoma and clipped the aneurysm concurrently. The patient recovered well post-surgery, with follow-up assessments confirming the successful resolution of both the adenoma and aneurysm. We proved the feasibility of the EEA in the treatment of pituitary adenomas with anterior communicating artery aneurysms under specific anatomical relationships and close intraoperative monitoring.
Case report: Isolated axillary lymph node metastasis in high-risk endometrial cancer
Authors: Yi-Ju Amy Chen, Myoe Oo, Yiqing Xu
Journal: Front Oncol (2024)
Keywords: axillary lymph node, endometrial cancer, isolated metastasis, radiotherapy, systemic treatment
MeSH terms: Case Reports

Introduction:
There are risks of developing distant metastases over time for both early- and advanced-stage endometrial cancer. Axillary lymph node metastasis as the first site of recurrence, whether isolated or non-isolated, is uncommon, and there are currently no established treatment guidelines for such cases. This study highlights four cases of recurrent endometrial cancer that manifested axillary lymph node metastasis, providing a comprehensive review of their distinctive clinical behavior and the treatment strategies employed.
Methods:
We reviewed and compared four cases of recurrent endometrial cancer that developed axillary lymph node metastasis following adjuvant treatment. Patients' perspectives were also discussed.
Results:
All four patients had aggressive endometrial histology, including high-grade serous carcinoma and carcinosarcoma. The stages at presentation were stages I and III, with laparotomy or laparoscopy used as the initial surgical approach. Axillary lymph node metastasis was the primary site of recurrence in three cases. Of the three patients with isolated axillary lymph node metastasis, two had long-term survival after aggressive locoregional treatment comprising surgery and radiation.
Conclusion:
Axillary lymph node metastasis as the first site of recurrence is rare, even in high-risk endometrial cancer. In addition to systemic chemotherapy, aggressive locoregional treatment can potentially maximize the chance of long-term disease control.