OpenMed/multicare-articles huggingface dataset:
Congenital Malaria in a 2-Day-Old Neonate: A Case Report and Literature Review
Authors: Dickson Kajoba, Walufu Ivan Egesa, Habonimana Jean Petit, Muhiadin Omar Matan, Goretty Laker, William Mugowa Waibi, Daniel Asiimwe
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Congenital malaria is the presence of malaria parasites in a blood smear obtained from a neonate usually within 24 hours to 7 days of life. It has for long been regarded a rare condition. However, recent data indicate that congenital malaria complicates around 35.9% of live births globally, 0-37% in Sub-Saharan Africa and about 4-6.1% in Eastern Uganda. We present a 2-day-old neonate who presented with fever, irritability, and failure to breastfeed. Laboratory tests indicated that the neonate had a positive Giemsa-stained peripheral smear for Plasmodium falciparum, with a positive malaria rapid diagnostic test (MRDT) for P. falciparum malaria. The mother had a negative peripheral film for malaria and a negative MRDT. The neonate was managed with intravenous artesunate with improvement.
A Rare Case of Chronic Uterine Inversion Secondary to Submucosal Fibroid Managed in the Province Hospital of Nepal
Authors: Amit Singh, Rajan Ghimire
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Uterine inversion secondary to uterine pathology is a rare scenario that a gynecologist encounters. Unlike puerperal uterine inversion, it is misleading and may not always be possible to reduce to normal position without surgery. We report a case of a 35-year female with per vaginal bleeding for fifteen months with a mass-like sensation in the vaginal canal. She presented in shock and had a globular mass in the vaginal canal with the indistinct cervical os. She was resuscitated with blood transfusions and intravenous fluid. She was posted for emergency surgery where myomectomy was done vaginally, and finally, Haultain's procedure was carried out. The uterus was preserved.
Guillain-Barré Syndrome with asystole requiring permanent pacemaker: a case report
Authors: Mehul B Patel, Sandeep K Goyal, Sujeeth R Punnam, Khyati Pandya, Vipin Khetarpal, Ranjan K Thakur
Journal: J Med Case Rep (2009)

Introduction:
Guillain-Barré syndrome is an acute demyelinating disorder of the peripheral nervous system that results from an aberrant immune response directed at peripheral nerves. Autonomic abnormalities in Guillain-Barré syndrome are usually transient and reversible. We present a case of Guillain-Barré syndrome requiring a permanent pacemaker in view of persistent symptomatic bradyarrhythmia.
Case presentation:
An 18-year-old Caucasian female presented with bilateral lower limb paraesthesias followed by bilateral progressive leg weakness and difficulty in walking. She reported an episode of an upper respiratory tract infection 3 weeks prior to the onset of her neurological symptoms. Diagnosis of Guillain-Barré syndrome was considered and a lumbar puncture was performed. Cerebrospinal fluid revealed albuminocytologic dissociation (increased protein but normal white blood cell count) suggestive of Guillain-Barré syndrome and hence an intravenous immunoglobulin G infusion was started. Within 48 hours, she progressed to complete flaccid quadriparesis with involvement of respiratory muscles requiring mechanical ventilatory support. Whist in the intensive care unit, she developed multiple episodes of bradycardia and asystole requiring a temporary pacemaker. In view of the persistent requirement for the temporary pacemaker for more than 5 days, she received a permanent pacemaker. She returned for follow-up three months after discharge with an intermittent need for ventricular pacing.
Conclusion:
Guillain-Barré syndrome can result in permanent damage to the cardiac conduction system. Patients with multiple episodes of bradycardia and asystole in the setting of Guillain-Barré syndrome should be evaluated and considered as potential candidates for permanent pacemaker implantation.
Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature
Authors: Jiasun Su, Huayu Fu, Bobo Xie, Weiliang Lu, Wei Li, Yuan Wei, Qiang Zhang, Shengkai Wei, Qiuli Chen, Yingchi Lu, Tingting Jiang, Jingsi Luo, Zailong Qin
Journal: Mol Cytogenet (2019)
Keywords: cri-du-chat syndrome, prenatal diagnosis, snp microarray, ultrasound findings
MeSH terms: Case Reports

Background:
Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy. Prenatal diagnosis of CdCS is difficult due to the non-specific ultrasound features. And reports using array analysis are rare. This study presented the first retrospective analysis of prenatal series of CdCS fetuses diagnosed by single nucleotide polymorphism (SNP) array in China.
Case presentation:
A total of 35,233 pregnant women were enrolled from Jan 2014 to April 2019 in our center, there are twelve 5p- cases with abnormal sonographic signs revealed by SNP array, giving an incidence of 0.034% (12/35,233). Clinical information and molecular basis included: maternal demographics, indications for invasive testing, sonographic findings and SNP array results. Among all the 5p- cases revealed, nine cases were diagnosed by both karyotyping and SNP array, three cases were detected only by SNP array. Half of our cases (6/12) had an isolated 5p terminal deletion, which sizes ranged from 9.0 Mb to 30 Mb. The other half of cases (6/12) characterized by unbalanced translocation, with sex ratio 7:5 (female: male), when combine the clinical features observed from this study and available literature, the most frequent anomaly observed in prenatal ultrasound examination of CdCS was cerebral abnormalities, accounted for 44.4% (16/36) of the existing cases. Features that are less consistent included: choroid plexus cyst (13.8%, 5/36), single umbilical artery (13.3%, 4/30), ventricular septal defect (11.1%, 4/36), hydrops fetalis (8.3%, 3/36), ascites (8.3%, 3/36), increased NT/NF (8.3%, 3/36), absent/severely hypoplastic nasal bone (5.5%, 2/36), in order.
Conclusion:
Prenatal findings such as cerebral abnormalities, absent/hypoplastic nasal bone, hydrops fetalis, ascites or encephalocele may act as suggestive signs of CdCS or other microdeletion/duplication syndromes. Combining typical karyotyping with chromosomal microarray analysis (CMA) is a definitive method for a precise diagnosis of CdCS and provides more accurate results in order to offer genetic counseling to families which need to deal with cryptic aberrations.
Case Report: Bronchial artery embolization and chemoradiotherapy for central squamous cell lung carcinoma with rapid regression
Authors: Siqi Zhou, Jianxin Zhang, Xue Meng, Yingtao Meng, Xiao Han
Journal: Front Oncol (2022)
Keywords: case report, combined treatment, hemoptysis, interventional embolization, lung cancer
MeSH terms: Case Reports

Background:
Interventional embolization is a common treatment for hemoptysis, one of the complications of lung cancer. However, there are no official guidelines for the use of this method in antitumor therapy.
Case description:
Herein, we describe a case of a patient who was pathologically diagnosed as central squamous cell lung cancer. The patient received chemotherapy, interventional embolization and radiotherapy successively. The tumor regressed rapidly within 48 hours of receipt of interventional embolization. Furthermore, the tumor decreased by more than 50% in size within 7 days during radiotherapy. Unfortunately, the patient has since developed lymph node metastases and remains under treatment.
Conclusions:
Thus, finding the suitable blood vessel embolized may be a suitable option to reduce the local tumor load and can be considered as antitumor therapy in combination with other treatments. The patient's theoretical hypoxia state after interventional therapy still produced a good tumor regression after radiotherapy. However, so far, no related studies have reported the changes of tumor immune microenvironment in human body after intervention and radiotherapy.
Quinidine Therapy for Lennox-Gastaut Syndrome With KCNT1 Mutation. A Case Report and Literature Review
Authors: Yu Jia, Yicong Lin, Jing Li, Mingyu Li, Yifan Zhang, Yue Hou, Aihua Liu, Liping Zhang, Liping Li, Peng Xiang, Jing Ye, Zhaoyang Huang, Yuping Wang
Journal: Front Neurol (2019)
Keywords: kcnt1 mutation, lennox-gastaut syndrome, epileptiform discharges, quinidine therapy, sodium-activated potassium channel
MeSH terms: Case Reports

Mutations in the Potassium channel subfamily T member 1 (KCNT1) gene have been reported in a range of epileptic encephalopathies. Here we report the case of a 12-year-old male suffering from multiple types of epileptic seizures and cognitive decline from the age of 10. The patient had four types of epileptic seizures, including tonic seizures, atypical absence seizures, myoclonic seizures, and generalized tonic-clonic seizures. The electroencephalogram showed generalized slow spike-and-slow-waves, mutiple-spike-and-slow-waves, as well as short-term fast rhythms bursts. Thus, he was diagnosed with Lennox-Gastaut syndrome. The patient had failed to control seizures after using five first-line antiepileptic drugs. Whole exome sequencing revealed a missense KCNT1 mutation (c.625 C>T). Previous studies revealed that quinidine could block the KCNT1 channel. Therefore, we assumed that quinidine might be effective for him. Add-on treatment with quinidine was started when the patient was 12 years old. After an 8-month treatment, the frequency of seizures and epileptiform discharges were significantly reduced. In conclusion, quinidine therapy may offer a new choice for the treatment of Lennox-Gastaut syndrome with KCNT1 mutations.
Clinical Quiz-A Rare Case of Anal Canal Duplication in the Context of Currarino Syndrome
Authors: Sean Jared Connor, Giulia Brisighelli, Nirav Patel, Marc A Levitt
Journal: European J Pediatr Surg Rep (2021)
Keywords: anal canal, anorectal malformation, congenital abnormalities, currarino syndrome, sacral defect
MeSH terms: Case Reports

Currarino syndrome (CS) is a rare condition that presents with any combination of a sacral defect, a presacral mass, and an anorectal malformation. This collection, referred to as Currarino's triad, may not necessarily present as all three abnormalities in the diagnosis of the syndrome. Anal canal duplication (ACD) is an even rarer occurrence. We present a case that lies on the CS spectrum with an associated ACD and discuss a complex surgical challenge that necessitated a customized management plan, devised through a multidisciplinary approach.
Hyperkalemic recurrent bilateral lower extremity weakness in a patient on hemodialysis
Authors: Getaw Worku Hassen, Suzanne Newstead, Lorraine Maria Giordano
Journal: Case Rep Emerg Med (2012)
MeSH terms: Case Reports

Hyperkalemia is a severe life-threatening electrolyte disorder that commonly affects the cardiac conductivity and contractility. Ascending paralysis affecting the extremities with focal neurological deficit as well as quadriparesis and a seizure associated with hyperkalemia has been reported in the literature. Here, we describe a case of isolated recurrent lower extremity paralysis and an episode of seizure in an 83-year-old patient with end-stage renal disease on hemodialysis.
Ligation of injured subclavian vessels saved a young life: a case report
Authors: Sharfuddin Chowdhury, Abdallah Alferdaus
Journal: Pan Afr Med J (2022)
Keywords: stab wound, case report, mediastinum, subclavian artery, upper extremity
MeSH terms: Wounds, Penetrating, Case Reports, Adult, Clavicle, Humans, Ligation, Male, Sternotomy, Subclavian Artery, Trauma Centers, Young Adult

We describe a rare life-saving case of penetrating subclavian vessel injury that was managed successfully at King Saud Medical City, a major trauma center in Riyadh, Saudi Arabia. The patient was a healthy 21-year-old Saudi male who was presented initially at Al-Aflaj Hospital, 300 km away from King Saud Medical City, following a stab with a knife to the left side of his lower neck. He was transferred to King Saud Medical City for definitive surgical management after having temporary bleeding control at Al-Aflaj Hospital. The patient was successfully managed with a median sternotomy, left supraclavicular extension, and clavicular division. Hemostasis was achieved by ligating the injured subclavian vessels in a situation of extremes to save a life. His postoperative course was uneventful. He was discharged on the eleventh postoperative day with an intact neurovascular condition of the left upper limb.
Case Report: What-or who-killed Frank Ramsey? Some reflections on cause of death and the nature of medical reasoning
Authors: Cheryl Misak, C David Naylor, Mark Tonelli, Trisha Greenhalgh, Graham Foster
Journal: Wellcome Open Res (2022)
Keywords: frank ramsey, weil's disease, gallstones, primary sclerosing cholangitis, uncertainty
MeSH terms: Case Reports

Philosopher Frank Ramsey died in 1930 aged only 26. There has been much speculation about the nature of his final illness and the sequence of events which led to his death. To prepare this case report, we traced Ramsey's medical records and combined them with an extensive and unique dataset of contemporaneous sources. We use these to evaluate three possible explanations for Ramsey's illness and its unexpectedly fatal trajectory-infectious (Weil's disease), autoimmune (primary sclerosing cholangitis) and obstructive (gallstones). We explore how uncertainty surrounding each of these possibilities might have influenced Ramsey's doctors' thoughts and actions, including their ill-fated decision to perform the emergency operation that appears to have precipitated his final decline. We then reflect on the unfinished opus on which Ramsey was working when he died-on the nature of truth and how humans reason under conditions of uncertainty. We end with some thoughts linking Ramsey's death to his philosophy.
Hybrid treatment of fibroadipose vascular anomaly: A case report
Authors: Francesco Stillo, Federica Ruggiero, Antonio De Fiores, Rita Compagna, Bruno Amato
Journal: Open Med (Wars) (2020)
Keywords: pik3ca mutation, case report, ethanol embolization, fibroadipose vascular anomaly, growth syndromes

Background:
First identified in 2014, fibroadipose vascular anomaly (FAVA) is a very rare type of venous and lymphatic malformation. Marked by tough fibrofatty tissue in the extremities overtaking portions of the muscles, it is associated with constant pain and contracture of the affected extremity. There is a paucity of literature, and no guidelines on treatment procedure are available. This case highlights the role of hybrid treatment with primary ethanol percutaneous ethanol embolization and additional surgery for radicality in excision of FAVA lesions.
Case summary:
A 9-year-old girl with FAVA underwent the hybrid treatment. The achievements of complete excision, clinical response, and patient satisfaction in long-term follow-up were assessed. Following the hybrid treatment, the patient experienced significant improvement in pain. Concurrent symptoms of physical limitation, leg swelling, and skin hyperesthesia also improved. The clinical benefit, supported by postoperative physiotherapy, was well stabilized at 6-month follow-up, resulting in complete patient satisfaction at 12- and 36-month follow-ups. No major complications were encountered.
Conclusion:
Ethanol embolization plus surgery is a safe, effective, and long-term hybrid treatment of symptomatic FAVA lesions.
Case Report: Spontaneous cholecystocutaneous fistula, a rare cholethiasis complication
Authors: Nunzio Maria Angelo Rinzivillo, Riccardo Danna, Vito Leanza, Melissa Lodato, Salvatore Marchese, Francesco Basile, Guido Nicola Zanghì
Journal: F1000Res (2017)
Keywords: bile ducts, cholecystocutaneous, fistula, laparotomy, abdominal fistula, cholethiasis, gallbladder cancer, gallbladder stones

One of the most unusual complications in cholethiasis is spontaneous cholecystocutaneous fistula, which has only been reported a few times in the literature. We report the case of a 76 year old man who presented with a right hypochondrium subcutaneous abscess, with pain evoked through palpation. No comorbidity in the patient's medical history were noted. Confirmation of cholecystocutaneous fistula was made using the proper diagnostic process, which is computed tomography with contrast media, followed by hepatobiliary MRI. This confirmed the presence of a fistulous pathway between the gallbladder and the skin. The patient underwent cholecystectomy surgery and open laparotomy with en block aponeurotic muscle, skin and fistula orifice excision.
A complicated case of whole-lung lavage: a case report
Authors: Simone Petrarulo, Manuel Lucchin, Stefano Oldani, Alessandra Dubini, Sara Piciucchi, Alberto Gori, Luca Aiello, Stefano Maitan, Paolo Spagnolo, Claudia Ravaglia, Venerino Poletti
Journal: Front Med (Lausanne) (2023)
Keywords: case report, lysinuric protein intolerance, pneumothorax, pulmonary alveolar proteinosis, whole-lung lavage
MeSH terms: Case Reports

Introduction:
We report a life-threatening case of severe respiratory failure due to a pulmonary alveolar proteinosis (PAP) secondary to lysinuric protein intolerance (LPI), complicated by a pre-existing right pneumothorax, which we treated using a rescue whole-lung lavage (WLL). To date, in the literature, there are no cases of WLL performed in this condition.
Clinical condition:
Patient was referred to our center because of rapidly worsening dyspnea and deterioration of gas exchange, caused by a secondary form of PAP which required an immediate therapeutic option such as the one offered by WLL. On physical examination, bilateral crackles were present, and peripheral blood oxygen saturation was 78% on oxygen with a FiO2 of 40%.
Interventions:
After stabilizing the clinical conditions with oxygen therapy erogated through a high-flow nasal cannula, shortly after admission, we performed a rescue WLL among two procedures. The procedure was very effective, and the patient was later discharged without oxygen therapy and in good clinical condition.
Conclusion:
Our case report represents a chance to help fill the gap of knowledge relative to secondary forms of PAP. The patient we presented suffers from a very rare genetic condition (LPI) that only has a few reported cases in the literature and has a very low prevalence which makes it difficult to produce the affected people:newborns ratio. We believe that difficult and rare cases like this one can improve our understanding of the disease and, most importantly, of how much the only therapeutic option we had, a rescue WLL, is effective to improve gas exchange and radiological features, despite being performed in these severe respiratory conditions.
Metastatic Merkel cell carcinoma response to nivolumab
Authors: Frances M Walocko, Benjamin Y Scheier, Paul W Harms, Leslie A Fecher, Christopher D Lao
Journal: J Immunother Cancer (2016)
Keywords: case report, immunotherapy, merkel cell carcinoma, nivolumab, pd-l1, polyomavirus

Background:
Merkel cell carcinoma (MCC) is an aggressive cutaneous neuroendocrine malignancy with limited treatment options. Several lines of evidence support the programmed death-1/programmed death-ligand 1 (PD-1/PD-L1) axis as a likely contributor to immune evasion in MCC.
Case presentation:
We report a case of a patient with metastatic MCC with a significant and durable response to nivolumab, a humanized IgG4 monoclonal anti-PD-1 antibody.
Conclusion:
Immunotherapy with PD-1/PD-L1 inhibitors has become a rational and promising treatment option for MCC in the advanced or metastatic disease. Clinical trials are currently in progress to further evaluate these novel therapeutic agents.
Complication of nasal piercing by Staphylococcus aureus endocarditis: a case report and a review of literature
Authors: Battagin Giuliana, Sarmati Loredana, Sordillo Pasquale, Picchi Giovanna, Calisti Giorgio, Ceccarelli Laura, Antonio Pellegrino, Nardi Paolo, Chiariello Luigi, Andreoni Massimo
Journal: Cases J (2010)

Body piercing, a growing trend especially in young people, is often complicated by severe infections. We present a case of acute bacterial endocarditis by Staphylococcus aureus complicated by multiple cerebral, kidney, spleen embolisms in a young girl, with no known previous cardiac abnormalities, following the piercing of nasal septum. This case highlights the importance of education of patients with and without structural heart disease to the potential dangerous and even life threatening infectious complications of piercing, and stimulate further discussion on the possibility of antibiotic prophylaxis of such procedures.
Two portuguese cochlear implanted dizygotic twins: a case report
Authors: Joana Rita Chora, Helena Simões-Teixeira, Tiago Daniel Matos, Jorge Humberto Martins, Marisa Alves, Raquel Ferreira, Luís Silva, Carlos Ribeiro, Graça Fialho, Helena Caria
Journal: Case Rep Genet (2012)

Individual's hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment. Here we report the case of dizygotic twins, boy and girl, presenting with neurosensorial profound deafness prior CI (age of implantation = 3.5 years old). Both parents have severe/profound deafness, since childhood, and use sign language as primary mode of communication. Clinical and genetic characterization was performed, as well as the assessment of the auditory and oral (re)habilitation after CI, applying a battery of audiological, speech, and language tests. The twin girl and the father were homozygous for the c.35delG mutation in the GJB2 gene, while the twin boy and the mother were compound heterozygotes, both monoallelic for c.35delG and for the deletion del(GJB6-D13S1830) in the GJB6 gene. The remaining hearing impaired relatives were c.35delG homozygotes. The genetic cause of deafness was thus identified in this family. Some noteworthy differences were observed regarding twins' auditory and oral performance after CI. Subsequent follow-up of these children allowed us to conclude that those differences were most likely due to the different environment in which the twins have been living than to their different GJB2/GJB6 genotypes.
Case Report: Occupational therapy in a patient with an overgrowth syndrome that restricts movement
Authors: Luca Coppeta, Sandro Gentili, Francesca Papa, Ludovico Maria De Zordo, Stefano Mugnaini, Antonio Pietroiusti
Journal: F1000Res (2019)
Keywords: proteus syndrome, semg, ergonomics, overgrowth
MeSH terms: Case Reports

Background: Overgrowth syndromes are a heterogeneous group of conditions characterized by excessive body growth - localized or generalized - commonly associated with various malformities and an increased oncological risk. Case report: Here we present the case of a 59-years old man, employed in an office, who suffers from an asymmetric overgrowth of the lower limbs. Currently the patient presents malformations of the lower left limb (hip, knee and ankle), evident on the articular and periarticular level, where there are diffuse exostoses. This case discusses the main occupational concerns relating to the patient's workspace at a high floor level that could create critical issues in the event of an emergency exodus. Given the impossibility of placing the patient in heavy manual activities, employment is limited to office activities. Adjustments were carried out at the patient's workstation, and thus the patient has been recognized as fit to work. Increased frequency of breaks were prescribed in order to allow the physiological alternation of postures. Conclusions: In cases of overgrowth syndromes, the exact identification of the limitations presented by the patient and observations about ambulatory functions must be carefully evaluated in order to modulate the work environment.