Multiple lymph nodes enlargement and fever as main manifestations of nocardiosis in immunocompetent individuals: Two case reports.

Nocardia farcinica is an aerobic gram-positive bacterium that is pathogenic to humans. It usually causes local and adjacent tissues' diseases at the entry of infection (most commonly occur in the lungs, skin, or central nervous system), which can also spread to other organs through the bloodstream such as joints, kidneys, and liver. However, these infections are often seen as opportunistic that occur in immunocompromised patients. Here, we report for the first time two immunocompetent patients lacking evidence of local infections, with multiple lymph node enlargements and fever as main clinical manifestations, finally diagnosed as nocardiosis by Metagenomic Next-Generation Sequencing testing (mNGS) from formalin-fixed and paraffin-embedded (FFPE) lymph node tissue, after all the other standard tests were negative. Both patients recovered after receiving anti-nocardia therapies. These two cases indicates that in healthy population, there may be more potential nocardia infections than we expected. Multiple lymph node enlargements and fever suggest a possibility of nocardiosis, especially in patients with fever of unknown origin (FUO). mNGS detection from FFPE lymph node tissue is an accurate, reliable and traceable method for diagnosis of nocardiosis.

Case report: A therapeutic attempt to treat Morbihan disease with Baricitinib.

A woman in her thirties who had been diagnosed with Morbihan disease did not notice a significant improvement in her condition after receiving years of treatment. Our decision to use Baricitinib helped her to achieve a better outcome. To our knowledge, this is the first study to use Baricitinib in Morbihan disease, although JAK inhibitors have already been successfully used before. It is hoped that our case report will provide new treatment options for Morbihan disease therapy.

Disseminated Mycobacterium tilburgii infection in a person with AIDS: A case report.

Background: Mycobacterium tilburgii is a nonculturable, nontuberculous mycobacterium that occasionally causes serious infections in individuals with immune deficiencies. Owing to its nonculturable nature, its antimicrobial susceptibility has not been assessed, and the optimal treatment regimen is unclear. Herein, we report a case of disseminated M. tilburgii infection in a person with AIDS, identified using metagenomics next-generation sequencing (mNGS) and polymerase chain reaction (PCR). Case presentation: A 33-year-old man presented with a 3-month history of abdominal pain, lymphadenopathy, intermittent night hot flashes, night sweats, and weight loss. No pathogen was detected during initial routine investigations. M. tilburgii was subsequently identified in a left cervical lymph node sample using mNGS. Furthermore, M. tilburgii infection was detected in a bone marrow sample based on PCR of 16S rRNA and hsp65 gene sequencing. The person was treated with a combination of moxifloxacin, clarithromycin, ethambutol, rifabutin, and amikacin. The laboratory results improved, and the patient's symptoms resolved. Conclusion: M. tilburgii may be missed in diagnostic tests because it cannot be grown using routine culture techniques. Early diagnosis and timely and effective treatment are critical in patients with M. tilburgii infection; therefore, molecular techniques are recommended for patients with suspected M. tilburgii infection.

Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report.

Miyoshi Muscular Dystrophy Type 1 is a rare autosomal recessive myopathy caused by mutations in the dysferlin (DYSF) gene. This disease presents with progressive distal lower limb weakness, such as gastrocnemius and soleus muscles resulting in difficulty standing on tiptoes, walking, and climbing stairs. We describe a family consisting of 6 siblings, 2 affected males, 1 affected female, 1 affected-death female, and 2 unaffected females. The affected members of this family have lived without an appropriate diagnosis for more than 20 years. Our patients have a homozygous nonsense pathogenic variant of the DYSF gene with 0 frequency in the Genome Aggregation Database. Our study shows that genetic testing provides a crucial aid to doctors when the physical examination and the clinical history are insufficient. It also emphasizes that a precise and accurate diagnosis prompts the correct management of a complex case.

Brain and muscles magnetic stimulation in a drug-free case of Parkinson's disease: Motor improvements concomitant to neuroplasticty.

Noninvasive stimulation of the nervous system is of growing interest in Parkinson's disease (PD) to slow-down motor decline and decrease medication and its side-effects. Repetitive transcranial magnetic stimulation (rTMS) used in PD to modulate the excitability of the primary motor cortex (M1) provided controversial results, in part because of interactions with medication. This warrants to administer rTMS in drug-free patients. Repetitive peripheral magnetic stimulation (rPMS of muscles) has not yet been tested in PD. Its influence on M1 plasticity (as tested by TMS, transcranial magnetic stimulation) and sensorimotor disorders in other health conditions makes it worth be explored in PD. Thus, rTMS and rPMS were tested in a drug-free woman (52 years old, PD-diagnosed 10 years ago) in four different rTMS + rPMS combinations (one week apart): sham-sham, real-real, real-sham, sham-real. rTMS was applied over M1 contralateral to the most impaired bodyside, and rPMS on muscles of the legs, trunk, and arms, bilaterally. M1 plasticity (TMS measures) and motor symptoms and function (clinical outcomes) were measured at different timepoints. The real-real session induced the largest motor improvements, with possible summation of effects between sessions, and maintenance at follow-up (80 days later). This was paralleled by changes of M1 facilitation and inhibition. This sheds a new light on the link between TMS measures of M1 plasticity and motor changes in PD and informs on the remaining potential for neuroplasticity and functional improvement after 10 years of PD with no antiparkinsonian drug. De novo patients with PD (drug-free) should be motivated to participate in future randomized clinical trials to further test the slow-down or delay of motor decline under noninvasive neurostimulation regimens, whatever the stage of the disease.

The co-occurrence of bilateral medial medullary infarction and anterior spinal artery syndrome in pregnancy: A case report.

Anterior spinal artery occlusion resulting in bilateral medial medullary infarction (bMMI) and anterior spinal artery syndrome (ASAS) simultaneously has been rarely described. To the best of our knowledge, this is the first report of such occurrence during pregnancy. A 23-year-old preeclamptic parturient at 374/7 weeks underwent an emergent cesarean section after developing gradual neurological deficits. Her symptoms started with a severe occipital headache and progressed to right-hand tingling, left-hand weakness, dyspnea, and elevated blood pressure (165/117 mmHg). Spinal anesthesia was performed by injection of bupivacaine 0.5% with no complications. Twenty minutes into the surgery, after the patient's systolic pressure fell below 85 mmHg, a bolus dose of ephedrine was administered. After a while, the patient presented with sudden respiratory distress and declining consciousness, prompting her immediate intubation. In the intensive care unit, she initially exhibited flaccid quadriplegia, sensory loss, areflexia, upward vertical nystagmus, and some cranial nerve (CN) palsy, including CN 9, 10, and 12, indicative of a medullary-level infarction extending downward. The magnetic resonance imaging (MRI) of the brain revealed a heart-shaped sign in the medulla, suggesting bMMI as a result of anterior spinal artery (ASA) occlusion. During the course of hospitalization, the patient regained the senses of vibration, touch, and proprioception; however, she has remained quadriplegic up to now.

Anesthetic management of extracorporeal membrane oxygenation-supported aortic bypass surgery for atypical coarctation with severe left ventricular dysfunction: A case report.

Atypical aortic coarctation is an exceedingly rare condition, and there are very few reported cases of anesthetic management for bypass surgery in patients with severe impaired cardiac function. We present the anesthetic management of a 68-year-old woman with atypical aortic coarctation due to Takayasu arteritis and severely impaired cardiac function, who underwent ascending-to-abdominal aorta bypass surgery under extracorporeal membrane oxygenation (ECMO). The patient's severe cardiac dysfunction was due to sustained afterload from the coarctation, leading to recurrent episodes of heart failure. Surgical intervention was deemed necessary, and a decision was made to perform a bypass operation. The patient experienced a transient state of shock following induction of anesthesia, but subsequent perioperative care was safely managed with the implementation of ECMO. For bypass surgery performed on patients with severe cardiac dysfunction due to atypical coarctation of the aorta, it is crucial to prepare for potential circulatory collapse during anesthesia induction and the surgical procedure. This preparation includes meticulous planning of the anesthesia induction method and ensuring that ECMO can be established promptly if needed.

Concurrent high risk HPV35, HPV45, and HPV59 infections in prostate and bladder cancer tissues of a single patient: A case report.

Human papillomavirus (HPV) infections, primarily transmitted through sexual contact, have been linked to various cancers, including cervical, penile, anal, oropharynx, breast, and prostate cancers. This study presents a unique case of concurrent high-risk HPV35, HPV45, and HPV59 infections in both prostate and bladder cancer tissues from a single patient, representing the first documented instance worldwide with identical HPV types detected in two adjacent organs of the same individual. Employing a multiplex-PCR approach, gel electrophoresis, and Sanger sequencing, we confirmed the presence of these high-risk HPV types. Additionally, Western blot analysis using an HPV E7 antibody demonstrated the active expression of HPV oncoproteins in both cancer types. This discovery underscores the potential for HPV intra-organ transmission and necessitates further exploration of alternative transmission routes. The implications of our results offer new insights into the complex dynamics of HPV transmission in cancer pathogenesis. In conclusion our study reveals concurrent HPV infections in both prostate and bladder cancers within a single patient and highlights the potential intra-organ spread of HPV and the need for further investigation of alternative transmission routes.

Case report: Immune response characterization of a pseudoprogression in a PD-L1-negative, TMB-low, KEAP1/STK11 co-mutated metastatic NSCLC.

A patient with a PD-L1-negative, TMB-low, KEAP1/STK11 co-mutated metastatic non-small cell lung cancer (NSCLC) experienced a multisite radiological progression at 3 months after initiation of chemoimmunotherapy as first-line treatment for metastatic disease. After the radiological progression, while she was not undergoing treatment, the patient had spontaneous lesions shrinkage and further achieved a prolonged complete response. Genomic and transcriptomic data collected at baseline and at the time of pseudoprogression allowed us to biologically characterize this rare response pattern. We observed the presence of a tumor-specific T-cell response against tumor-specific neoantigens (TNAs). Endogenous retroviruses (ERVs) expression following chemoimmunotherapy was also observed, concurrent with biological features of an anti-viral-like innate immune response with type I IFN signaling and production of CXCR3-associated chemokines. This is the first biological characterization of a NSCLC pseudoprogression under chemoimmunotherapy followed by a prolonged complete response in a PD-L1-negative, TMB-low, KEAP1/STK11 co-mutated NSCLC. These clinical and biological data underline that even patients with multiple factors of resistance to immune checkpoint inhibitors could trigger a tumor-specific immune response to tumor neoantigen, leading to complete eradication of the tumor and probably a vaccinal immune response.

Diagnostic efficacy of contrast-enhanced fluid-attenuated inversion recovery (FLAIR) imaging in idiopathic cerebrospinal fluid rhinorrhea.

We report a case of a 50-year-old woman in which contrast-enhanced fluid-attenuated inversion recovery (FLAIR) was used for the diagnosis of idiopathic cerebrospinal fluid rhinorrhea. The pre- and postcontrast FLAIR subtraction images showed a contrasted protrusion of the right olfactory cleft canal, highlighting the potential practicality and effectiveness of using pre- and postcontrast FLAIR subtraction images in diagnosing idiopathic cerebrospinal fluid rhinorrhea, in conjunction with conventional high-resolution computed tomography and magnetic resonance cisternography. The successful diagnosis of cerebrospinal fluid rhinorrhea allowed for treatment through endoscopic nasal surgery to close the fistula with a positive clinical outcome.

The association between GJB2 gene (producing Cx26 protein) and the ventricular storm: A case report.

BACKGROUND: A structural heart disease or functional electrical abnormalities can cause an electrical storm. CASE PRESENTATION: We present a young boy with an electrical storm who had no cardiac risk factors and a positive family history of sudden cardiac death. The stepwise diagnostic approach was ineffective in determining previously known causes as the origin of the electrical storm. However, whole-exome sequencing (with Next Generation Illumina Sequencing) revealed a mutation in the GJB2 (NM_004004:exon2:c.G71A:p.W24X) gene. CONCLUSION: A mutation in the GJB2 gene, which forms the connexin 26 protein, a crucial component of the myocytes' intercalated disc of gap junction complex between the myocytes, results in an abnormal electrical cell-by-cell conductance, and, eventually, ventricular storm. General anesthesia was used to control the storm, and intracardiac pacing was fruitful in ceasing the subsequent VT storms.

DGAT1 Mutation Associated With Congenital Diarrhea in a Pediatric Patient: A Case Report.

Chronic diarrhea in infants can stem from various etiologies, including congenital disorders affecting intestinal function. Here, we present a case of a one-year-old boy with persistent watery diarrhea, vomiting, and failure to thrive, ultimately diagnosed with DGAT1 deficiency through genetic testing. Despite initial investigations ruling out common causes like celiac disease, genetic analysis confirmed DGAT1 enteropathy. Management included intensive nutritional support and close monitoring, resulting in clinical improvement. This case underscores the importance of early genetic testing and tailored management in congenital enteropathies to prevent severe complications and improve patient outcomes.

Pulmonary Tuberculosis Complicated by Thrombotic Thrombocytopenic Purpura: A Case Report and Literature Review.

Thrombotic thrombocytopenic purpura is a rare but life-threatening emergency. Tuberculosis can have hematologic complications. However, concurrent tuberculosis and thrombotic thrombocytopenic purpura are extremely rare. In this study, we report a 53-year-old man who was initially treated for pulmonary tuberculosis but later developed weakness and an altered mental status. Laboratory tests revealed evidence of thrombocytopenia, acute renal insufficiency, and microangiopathic hemolytic anemia. Brain imaging identified intracranial hemorrhage. Further testing revealed low ADAMTS13 activity (1.8%) and positive anti-ADAMTS13 antibody, confirming the diagnosis of thrombotic thrombocytopenic purpura. The patient had a full recovery after anti-tuberculosis treatment, plasma exchange, and supportive care. We present this rare case and review previous relevant studies to remind clinicians about the potential connections between tuberculosis and thrombotic thrombocytopenic purpura. In patients with signs of severe thrombocytopenia and microangiopathic hemolysis, necessary diagnostic tests should be performed to eliminate the possibility of thrombotic thrombocytopenic purpura occurring concurrently with tuberculosis.

Home inotrope therapy in chronic stimulant-induced cardiomyopathy: a case series.

Background: Patients with chronic stimulant-induced cardiomyopathy presenting with cardiogenic shock can be stabilized with conventional measures. However, their management post-stabilization has not been well described and poses unique challenges: (i) less chance of myocardial recovery compared to acute stimulant-induced cardiomyopathy, (ii) psychosocial barriers to left ventricular assist device (LVAD) and heart transplantation, and (iii) concern for use of peripherally inserted central catheter for home inotrope in those with a history of substance abuse. Case summary: Three patients with chronic stimulant-induced cardiomyopathy were admitted with cardiogenic shock progressing to Society for Cardiovascular Angiography & Interventions stage D or E. They were stabilized with inotrope and/or biventricular mechanical circulatory support. Long-term home inotrope was used as either a bridge to LVAD, reverse remodelling, or stabilization. Discussion: Home inotrope should be viewed as an option in chronic stimulant-induced cardiomyopathy on a case-by-case basis. It can buy time to allow for myocardial stabilization or recovery through goal-directed medical therapy and stimulant cessation. It can also serve as a 'psychosocial stress test' for future consideration of advanced heart failure therapies.

Management of a pregnant woman with Marfan syndrome and aortic root and aberrant right subclavian artery aneurysm: a case report.

Background: Marfan syndrome is a genetic connective tissue disorder that commonly affects the cardiovascular, skeletal, and ocular system. The increased risk of developing thoracic aortic aneurysms that can lead to aortic dissection and rupture is the main source of mortality in these patients. Pregnancy-induced changes can further increase the risk for aortic complications, especially in patients with an aortic root diameter > 45 mm. Case summary: The case of a 26-year-old female with Marfan syndrome who was lost to follow-up for five years and presented to our department being pregnant at 21 weeks is presented. Echocardiography and cardiovascular magnetic resonance (CMR) showed an aortic root diameter of 55 mm and a large aneurysm of an aberrant right subclavian artery. Following multidisciplinary team discussion, valve-sparing aortic root and ascending aortic replacement was performed at 22 weeks of gestation without any complications. During the remaining pregnancy, the patient had frequent clinical and CMR follow-up investigations showing a mild increased size of the subclavian aneurysm. Uncomplicated caesarean delivery was performed at 35 weeks of gestation, and the subclavian artery aneurysm was successfully treated by interventional embolization. Discussion: Although cardiovascular surgery in our patient during pregnancy was uncomplicated, the case illustrates that pre-pregnancy counselling in Marfan patients is recommended to reduce the risk for mother and child.

Late dysfunction of a mechanical aortic valve after long-term low molecular weight heparin therapy: a case report.

Background: To date, vitamin K anticoagulants are the only recommended long-term therapy for mechanical heart valves. Bleeding episodes, thromboembolic events, and international normalized ratio monitoring are difficult and prevalent complications for these patients. This report reflects the late mechanical aortic valve dysfunction after long-term low molecular weight heparin therapy. Case summary: A 66-year-old male patient underwent mechanical aortic valve replacement in 2007. He was administered therapeutic doses of enoxaparin for nearly 12 years due to warfarin-related bleeding complications and labile international normalized ratios. However, he experienced multiple cardiovascular and cerebrovascular thromboembolic events, including an anterolateral ST-elevation myocardial infarction with left anterior descending artery thrombus, treated with thrombus aspiration and stenting. The patient was eventually admitted with symptoms and signs of acute heart failure, and echocardiography, fluoroscopy, and a cardiac computed tomography detected mechanical aortic valve prosthesis dysfunction, with an immobile leaflet and pannus. The patient demonstrated no improvement despite switching to unfractionated heparin, and he ultimately underwent redo aortic bioprosthetic valve surgery with a favourable outcome. Discussion: Low molecular weight heparin is prescribed for patients with aortic mechanical valves who are intolerant to vitamin K antagonists or as bridging in certain situations. Anti-Xa factor monitoring should be considered for long-term prescriptions.

Recurrent decompression sickness and late repermeabilization of patent foramen oval closure prosthesis: a diver's dilemma-case report.

Background: Decompression sickness (DCS) is a well-known risk associated with scuba diving, particularly in people with right-to-left shunt, such as patent foramen oval (PFO). Herein, we present a unique case of late PFO permeabilization after closure. Case summary: A 26-year-old male diver was diagnosed with DCS following a dive at 36 m. He underwent PFO closure with a STARFLEX® prosthesis. Ten years later, the patient was presented with recurrent manifestations suggestive of DCS. The performed diagnostic work-up detects a permeabilization of the implanted prosthesis, and he was treated with a conservative approach. Discussion: This case highlights the challenges in the management of PFO in divers and raises concerns about the long-term efficiency of PFO closure and the impact of diving-related factors on prosthesis patency.

ST-elevation myocardial infarction from septic embolism secondary to prosthetic aortic valve endocarditis: a case report.

Background: ST-elevation myocardial infarction (STEMI) is a cardiac emergency that requires prompt diagnosis and treatment. We describe a challenging and complex case of managing acute STEMI in a patient with severe anaemia, deranged clotting profile, and infective prodrome. Case summary: A 54-year-old Caucasian gentleman was referred by his general practitioner as an emergency after presenting with acute onset of chest pain. His electrocardiogram revealed anterior ST elevation. His past medical history includes a mechanical aortic valve, requiring anticoagulation, and a recent gastrointestinal bleed secondary to type C gastritis. His initial presentation was further complicated by severe anaemia, deranged clotting profile, and elevated infective markers. He required a prompt transfer to the catheterization laboratory to assess and stabilize the situation. We discuss the emerging challenges during treatment, particularly as the diagnosis of septic embolism from infective prosthetic valve endocarditis was unfolding, requiring urgent cardiac surgery. Discussion: Acute coronary vessel closure leading to STEMI from septic embolism secondary to prosthetic aortic valve endocarditis is very rare. It is essential to consider the whole picture of the presentation for timely diagnosis and tailored treatment.

Cardiac sarcoidosis manifesting with atrioventricular block and intracardiac masses: case report and literature review.

Background: Cardiac sarcoidosis (CS) typically manifests with atrioventricular block (AVB), ventricular arrhythmias, or heart failure. Intracardiac masses due to CS are rare, and there is both a paucity of evidence and guidelines of how manage them. Case summary: We describe a 45-year-old woman who presented with palpitations and dyspnoea on exertion found to have second-degree AVB. Further work-up noted two right atrial masses that, following excision and pathology, were identified as CS. Within several months of immunosuppressive treatment, imaging and device reports demonstrated mass resolution without arrhythmia recurrence. Discussion: Intracardiac masses are a rare manifestation of CS. Immunosuppressive therapy remains the mainstay of treatment, with consideration of mass resection for diagnostic purposes.

Aggressive fibromatosis of the sigmoid colon: A case report.

BACKGROUND: Aggressive fibromatosis (AF), also known as desmoid tumor or desmoid-type fibromatosis, is a rare soft tissue neoplasm that can occur in almost any part of the body. Although it is a benign disease, AF is aggressive and infiltrative and has a high recurrence rate after surgery. Common sites for intra-abdominal AF are the small bowel mesentery, retroperitoneum, and pelvis. AF in the colon is extremely rare. CASE SUMMARY: Here, we report the first case of sigmoid colon AF, which was accidentally discovered in a 27-year-old woman during laparoscopic myomectomy. Computed tomography confirmed a slightly enhanced mass in the sigmoid colon. Subsequent colonoscopy did not reveal a mass in the colonic lumen, but a suspected external compress was found in the sigmoid colon. Surgical disease involving a gastrointestinal stromal tumor was suspected. The patient underwent laparoscopic exploration, and sigmoidectomy with a negative margin was performed to excise the mass. Postoperative immunohistochemistry revealed that the mass was an AF. The patient recovered well and was recurrence-free at the 30-month follow-up without adjuvant therapy. CONCLUSION: AF should be considered in the differential diagnosis of subepithelial colon masses. Radical resection alone can achieve good outcomes.