OpenMed/multicare-articles huggingface dataset:
The Elusive Neuroendocrine Tumor: Finding the Ectopic ACTH Source 16 Years After the Diagnosis of Cushing Syndrome
Authors: Galina Smushkin, Richard Phillips, Guillaume Chausse
Journal: JCEM Case Rep (2023)
Keywords: acth syndrome, cushing syndrome, adrenalectomy, ectopic, gastro-enteropancreatic neuroendocrine tumor
MeSH terms: Case Reports

Ectopic adrenocorticotropin hormone (ACTH) syndrome (EAS) accounts for the minority of cases of Cushing syndrome. Up to 20% of these cases remain occult, despite multiple imaging attempts to localize the ACTH-producing tumor. Here we describe long-term follow-up of a 41-year-old woman, with ectopic Cushing syndrome initially classified as occult due to negative localization studies, who had bilateral adrenalectomy to manage hypercortisolism. After 16 years and many computed tomography (CT) scans, magnetic resonance imaging scans, Octreoscans, and 2 exploration surgeries for false positives on imaging, the source of ectopic ACTH production was localized in the pancreas utilizing molecular imaging with gallium-68 somatostatin receptor-targeted positron emission tomography (PET)/CT and fluorine-18 fluorodeoxyglucose PET/CT. She underwent a distal pancreatectomy, and pathology confirmed a 1.7-cm well-differentiated pancreatic neuroendocrine tumor with a moderately strong reactivity to ACTH stain. This case demonstrates the utility of multiple functional imaging modalities in resolving these "cold cases" of occult ectopic Cushing syndrome and the importance of a timely management of hypercortisolism with bilateral adrenalectomy.
Dual challenge inside the womb: a case report of concomitant fetal atrio-ventricular block associated with maternal anti-SSA antibodies and fetal tachyarrhythmia diagnosed as Wolff-Parkinson-White syndrome after birth
Authors: Ana Teodósio Chícharo, Mónica Rebelo, Ana Rita Lopes, Maria João Saavedra, Maria Filipa Paramés, Ana Rita Araújo, Ana Rita Cruz-Machado, Luísa Pinto, Susana Capela
Journal: Front Immunol (2024)
Keywords: wolff-parkinson-white syndrome, anti-ssa/ro antibodies, case report, congenital heart block, fetal atrio-ventricular block, pregnancy
MeSH terms: Antibodies, Antinuclear / blood, Antibodies, Antinuclear / immunology, Atrioventricular Block / diagnosis, Atrioventricular Block / etiology, Atrioventricular Block / immunology, Tachycardia / diagnosis, Tachycardia / etiology, Wolff-Parkinson-White Syndrome / diagnosis, Wolff-Parkinson-White Syndrome / immunology, Case Reports, Adult, Female, Fetal Diseases / diagnosis, Fetal Diseases / immunology, Humans, Immunoglobulins, Intravenous / therapeutic use, Infant, Newborn, Pregnancy, Antibodies, Antinuclear, SS-A antibodies, Immunoglobulins, Intravenous

Fetal autoimmune atrioventricular block (AVB) is a rare but potentially life-threatening condition. It results from the passage of maternal anti-SSA/Ro or Anti SSB/La auto-antibodies into the fetal circulation, leading to inflammation and fibrosis of the AV node and often to irreversible damage. Besides AVB, these antibodies can also cause cardiomyopathies, but there is no evidence linking them to tachyarrhythmias. We present the case of a patient with significant risk factors for fetal AVB: a prior history of hydrops fetalis, high anti-SSA/Ro antibody levels and hypothyroidism. In this case, the use of dexamethasone and intravenous immunoglobulin may have contributed to reversing the first-degree atrioventricular block detected at 19 weeks of gestation. Additionally, at 21 weeks, the fetus developed a tachyarrhythmia that needed treatment with flecainide. Soon after the birth, the newborn underwent ECG Holter and Wolff-Parkinson-White Syndrome (WPWS) was diagnosed. To our knowledge, the coexistence of fetal AVB and WPWS has never been described.
Case report: Concurrent MOG antibody-associated disease and latent infections in two patients
Authors: Laila Kulsvehagen, Tim Woelfle, Ana Beatriz Ayroza Galvão Ribeiro Gomes, Patrick Lipps, Tradite Neziraj, Julia Flammer, Karoline Leuzinger, Tobias Derfuss, Jens Kuhle, Athina Papadopoulou, Anne-Katrin Pröbstel
Journal: Front Immunol (2024)
Keywords: b cells, antibodies, case report, infection, molecular mimicry, myelin oligodendrocyte glycoprotein, myelin oligodendrocyte glycoprotein antibody-associated disease, syphilis
MeSH terms: Autoantibodies / blood, Autoantibodies / immunology, Myelin-Oligodendrocyte Glycoprotein / immunology, Syphilis / blood, Syphilis / complications, Syphilis / diagnosis, Syphilis / immunology, Treponema pallidum / immunology, Case Reports, Adult, B-Lymphocytes / immunology, Female, Humans, Latent Infection / diagnosis, Latent Infection / immunology, Male, Middle Aged, Myelin-Oligodendrocyte Glycoprotein, Autoantibodies, MOG protein, human

Objectives:
Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is frequently preceded by infections. The underlying pathomechanism, however, remains poorly understood. Here, we present the clinical data of two MOGAD patients with concurrent syphilis infection and investigate the reactivity of patient-derived antibodies to MOG and Treponema pallidum (T. pallidum).
Methods:
Longitudinal serum samples and soluble immunoglobulins in single B cell supernatants were measured for MOG reactivity by a live cell-based assay. Reactivity against T. pallidum was assessed by enzyme-linked immunosorbent assay.
Results:
The two patients presented MOGAD and concurrent latent syphilis infection, manifesting as cervical myelitis and unilateral optic neuritis, respectively. The first patient had been living with HIV on antiretroviral therapy, and the second was concomitantly diagnosed with chronic hepatitis B infection. Upon screening of B cell supernatants, we identified reactivity to MOG or T. pallidum. Notably, one B cell showed reactivity to both antigens.
Discussion:
The coexistence of MOGAD diagnoses and latent syphilis, alongside the identification of antibody reactivity to MOG and T. pallidum, underscores the potential pathomechanistic link between syphilis infection and subsequent autoimmune neuroinflammation. Cross-reactivity between MOG and T. pallidum antibodies remains to be validated on a molecular level, and further characterization of infectious triggers associated with MOGAD is needed.
Successful switch to ofatumumab after liver injury associated with ocrelizumab treatment in multiple sclerosis: a case report
Authors: Alice Mariottini, Alessandro Barilaro, Antonio Lotti, Fabio Marra, Luca Massacesi
Journal: Front Neurol (2024)
Keywords: b-cell depletion, case report, liver injury, monoclonal antibody, multiple sclerosis, ocrelizumab, ofatumumab
MeSH terms: Case Reports

Drug-induced liver injury (DILI) is a potential adverse event of disease-modifying therapies (DMTs) for the treatment of multiple sclerosis (MS), as well as of methylprednisolone pulsed therapy used in case of MS relapse. DILI may be induced by different mechanisms, including idiosyncratic reaction, autoimmune hepatitis or viral reactivation. In patients receiving the humanized anti-CD20 monoclonal antibody (mAb) ocrelizumab, DILI has been rarely reported and was mostly associated with hepatitis B virus (HBV) reactivation. Here we present the case of a woman with highly active relapsing-remitting MS who had experienced two episodes of DILI while receiving different DMTs, and was successfully switched to ofatumumab, a fully human anti-CD20 mAb, after a further event associated with ocrelizumab treatment and unrelated to HBV reactivation. Despite sharing the mechanism of action, differences in structure, pharmacokinetic/pharmacodynamic profile, and use of ancillary drugs (only needed for ocrelizumab) may have accounted for the successful switch. To our knowledge, this is the first report of a successful switch from ocrelizumab to ofatumumab due to DILI. Ofatumumab may therefore represent a valid therapeutic option for patients experiencing DMTs- and ocrelizumab-induced liver injury, providing that HBV reactivation has been ruled out.
Case Report: Vascular access in paediatric haemodialysis patients-creating and maintaining the patency of an arteriovenous fistula
Authors: Ramona Stroescu, Serban Comsa, Flavia Chisavu, Mihai Gafencu
Journal: Front Surg (2024)
Keywords: arteriovenous fistula, children, hemodialysis, surgeon, thrombosis
MeSH terms: Case Reports

Introduction:
Paediatric vascular access is a demanding field. The need for a multidisciplinary team is mandatory in children with end-stage kidney disease (ESKD). Central venous catheters (CVCs) remain the preferred option worldwide. Recent emerging data demonstrated the benefits of using arteriovenous fistulas (AVFs) in the paediatric population for long-term vascular access. The small vessel size in children represents a surgical challenge for vascular access.
Case presentation:
We report three cases from our haemodialysis department and the difficulty in maintaining permanent vascular access. The first case is an adolescent girl who required a change in vascular approach after multiple central venous catheter (CVC) infections and catheter thrombosis secondary to thrombophilia. Three AVFs were performed but failure occurred early. The patient was also diagnosed with a complex vascular thrombosis with total occlusion of the inferior vena cava and completed distal thrombosis of the superior vena cava. A permanent CVC was placed in the right jugular vein with the tip in the azygos vein. The second case is of an adolescent boy with systemic vasculitis with multiple CVC infections secondary to immunosuppression. The first thrombosis of two right AVFs occurred early with the development of a pseudo-aneurysm that required surgical intervention. The left brachial-cephalic fistula required surgery for closing the collaterals, repositioning and superficialisation. The third case is an adolescent boy with one surgical stage brachial-basilic left AVF and difficulties in venous puncturing.
Conclusion:
Vascular access in paediatric haemodialysis remains a demanding field. There is a need for a multidisciplinary team, consisting of a vascular surgeon and an interventional radiologist specialising in children.
Navigating Treatment Refusal: Behaviour Guidance for Down Syndrome Oral Health Management
Authors: Lila Sari, Risti Saptarini Primarti, Arlette Suzy Setiawan
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

Background:
Managing dental care in children with special health care needs poses distinct challenges. This case report explores these challenges within the context of a 9-year-old boy with Down syndrome (DS) facing dental treatment refusal. Case Report. Over ten months and 13 visits, a tailored approach was devised for the patient who presented with multiple cavities and retained primary teeth. Key strategies included gradually introducing dental procedures, including tooth brushing, intraoral examination, tooth preparation, extraction, and myofunctional therapy. Behaviour guidance techniques include tell-show-do, desensitization, positive reinforcement, and close collaboration between dental professionals and the patient's mother. Discussion. This methodical approach helped overcome the child's initial refusal without sedation or general anaesthesia, facilitating successful dental care.
Conclusion:
This case emphasizes the effectiveness of patient-centred strategies and detailed communication in pediatric dentistry for children with DS, providing valuable insights for managing similar challenges in dental care.
Regression of Multiple Intracranial Meningiomas With Cessation of Progesterone Agonist Therapy: A Case Report
Authors: David S Bailey, Kevin John, Lekhaj C Daggubati, Brad E Zacharia
Journal: Cureus (2024)
Keywords: extra-axial lesion, hormonal influence on meningioma, megestrol acetate, meningioma, progestin
MeSH terms: Case Reports

In this case report, we discuss a patient who experienced spontaneous regression of multiple intracranial meningiomas that were treated conservatively for 5 years after cessation of megestrol acetate, an exogenous progestin. In addition, we discuss the previous literature describing the relationship between exogenous progesterone medications and meningioma growth. This case, along with others reported, implies that cessation of progesterone therapy, when feasible, may alter the natural history of meningioma growth and thus impact treatment decisions.
Acute myeloid leukemia post‑cytotoxic therapy following chemotherapy for thymoma: A case report
Authors: Masahiro Manabe, Yoko Tani, Naoyuki Inano, Yuuji Hagiwara, Nobuhiro Sogabe, Satoru Nanno, Ki-Rhang Koh
Journal: Med Int (Lond) (2024)
Keywords: acute myeloid leukemia, chemotherapy, harlequin cell, therapy-related, thymoma
MeSH terms: Case Reports

The present study reports the case of a patient with acute myeloid leukemia post-cytotoxic therapy (AML-pCT) that developed following chemotherapy for thymoma. A 64-year-old female patient underwent surgical resection for a mediastinal tumor and was diagnosed with stage IVa thymoma. She received chemotherapy, including carboplatin/etoposide, carboplatin/paclitaxel and amrubicin monotherapy. At 56 months following surgery, she developed blastosis and was diagnosed with AML-pCT. As demonstrated herein, although treatment for thymoma is associated with a markedly lower frequency of myeloid neoplasms post-cytotoxic therapy (MN-pCT) than treatment for other malignancies, such as breast carcinoma, it is important to be aware that MN-pCT may occur as a late complication of thymoma treatment.
Venetoclax in the treatment of secondary plasma cell leukemia with translocation t(11;14): a case report and literature review
Authors: Hesham Elsabah, Rola Ghasoub, Halima El Omri, Maria Benkhadra, Honar Cherif, Ruba Y Taha
Journal: Front Oncol (2024)
Keywords: bcl-2 inhibitor, multiple myeloma, plasma cell leukemia, t(11, 14) plasma cell neoplasm, venetoclax
MeSH terms: Case Reports

Introduction:
Venetoclax is a BCL-2 inhibitor with proven efficacy in patients with multiple myeloma (MM) and translocation t(11;14). However, its role in plasma cell leukemia (PCL) remains unclear. Herein, we aimed to report a case of relapsed MM with secondary PCL and t(11;14) achieving complete (CR) and durable remission with venetoclax therapy.
Case presentation:
A 52-year-old gentleman was diagnosed with MM-free light chain lambda (ISS III) in December 2016. He received induction therapy, followed by autologous stem cell transplant. (ASCT) in May 2017 and maintenance. A year later, the patient relapsed with secondary PCL. His cytogenetics analysis revealed t(11; 14). The patient failed salvage chemotherapy and was shifted to venetoclax with dexamethasone treatment. The patient attained complete remission (CR), which was maintained for two years and a half before he developed fatal COVID-19 pneumonia.
Conclusion:
In comparison with the reported literature, this case report offers the latest compilation of the available evidence on the use of venetoclax in patients with PCL. Furthermore, our patient achieved CR for the longest reported durable response in literature thus far. Prospective clinical trials are needed to elucidate the optimal dosage, combination, and duration of treatment, ensuring better representation and generalizability of the findings. Meanwhile, venetoclax may be considered as a therapeutic option in patients with PCL t(11;14).
Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay-Barrow/Foar Syndrome)
Authors: Alessia Mingarelli, Giovanni Battista Pipitone, Giacomo Torini, Maria Grazia Patricelli, Martina Totaro, Clara Colonna, Paola Carrera, Federico Raviglione
Journal: Case Rep Genet (2023)
MeSH terms: Case Reports

The LRP2 gene encodes megalin (LRP-2/GP330), a large single-spanning transmembrane glycoprotein that serves as a multiligand endocytotic receptor and mediates the reabsorption of albumin in the proximal renal tubule. LRP2 is implicated in an autosomal recessive disorder characterized by dimorphisms, ocular anomalies, sensorineural deafness, proteinuria, epilepsy, and intellectual disability: a clinical condition called Donnai-Barrow syndrome (DBS) or facio-oculo-acoustico-renal (FOAR) syndrome. Pathogenic variants in LRP2 have been reported in fewer than 60 patients, but a detailed description of seizures, electroencephalographic patterns, imaging findings, behavioral phenotype, and long-term follow-up is still needed. We provide a clinical report of two mono-chorionic twins with LRP2-related disease manifesting developmental delay, autistic features, seizures, proteinuria, and sleep disorders. By sequencing clinical exome, LRP2 candidate rare variants, c.6815G > A, p. (Arg2272His), inherited from the mother and c.12725A > G, p. (Asp4242Gly), inherited from the father, were identified. During follow-up, at the age of 7, the main clinical features of the patients included insomnia, autistic features, severe psychomotor delay, and absent speech. The patients were under treatment with risperidone, antiseizure medications (ASMs), and supplementation of alpha-lactalbumin for self-injury and sleep disturbance. Our study confirmed the wide spectrum of behavioral and neurological and psychiatric features of this rare condition, suggesting new treatment options.
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report
Authors: Katarina Pelin, Lydia Sagath, Johanna Lehtonen, Kirsi Kiiski, Olli Tynninen, Anders Paetau, Mridul Johari, Marco Savarese, Carina Wallgren-Pettersson, Vilma-Lotta Lehtokari
Journal: J Neuromuscul Dis (2023)
Keywords: nmd-cgh array, nemaline myopathy, rna sequencing, tpm3, alpha-tropomyosin, linked-read sequencing
MeSH terms: Myopathies, Nemaline / genetics, Case Reports, Exome Sequencing, Humans, Muscle, Skeletal / pathology, Sequence Analysis, RNA, Tropomyosin / genetics, Tropomyosin / metabolism, Tropomyosin, TPM3 protein, human

Background:
Pathogenic variants in the TPM3 gene, encoding slow skeletal muscle α-tropomyosin account for less than 5% of nemaline myopathy cases. Dominantly inherited or de novo missense variants in TPM3 are more common than recessive loss-of-function variants. The recessive variants reported to date seem to affect either the 5' or the 3' end of the skeletal muscle-specific TPM3 transcript.
Objectives:
The aim of the study was to identify the disease-causing gene and variants in a Finnish patient with an unusual form of nemaline myopathy.
Methods:
The genetic analyses included Sanger sequencing, whole-exome sequencing, targeted array-CGH, and linked-read whole genome sequencing. RNA sequencing was done on total RNA extracted from cultured myoblasts and myotubes of the patient and controls. TPM3 protein expression was assessed by Western blot analysis. The diagnostic muscle biopsy was analyzed by routine histopathological methods.
Results:
The patient had poor head control and failure to thrive, but no hypomimia, and his upper limbs were clearly weaker than his lower limbs, features which in combination with the histopathology suggested TPM3-caused nemaline myopathy. Muscle histopathology showed increased fiber size variation and numerous nemaline bodies predominantly in small type 1 fibers. The patient was found to be compound heterozygous for two splice-site variants in intron 1a of TPM3: NM_152263.4:c.117+2_5delTAGG, deleting the donor splice site of intron 1a, and NM_152263.4:c.117 + 164 C>T, which activates an acceptor splice site preceding a non-coding exon in intron 1a. RNA sequencing revealed inclusion of intron 1a and the non-coding exon in the transcripts, resulting in early premature stop codons. Western blot using patient myoblasts revealed markedly reduced levels of the TPM3 protein.
Conclusions:
Novel biallelic splice-site variants were shown to markedly reduce TPM3 protein expression. The effects of the variants on splicing were readily revealed by RNA sequencing, demonstrating the power of the method.
Case Report: Surgical challenges and insights in a child with a blunt left diaphragmatic and pericardial rupture and heart subluxation
Authors: Melaku Tessema Kassie, Motuma Gonfa Ayana, Ruth Betremariam Abebe, Befikadu Molalign Abebe
Journal: Front Surg (2024)
Keywords: blunt trauma, diaphragmatic rupture, heart subluxation, pediatric trauma, pericardial tear
MeSH terms: Case Reports

Introduction:
Blunt diaphragmatic rupture (BTDR) is a rare condition that can occur in children following high-energy blunt thoracoabdominal trauma. In less than 1% of the cases, pericardial rupture can coexist with a BTDR. A coexistence of BTDR and pericardial rupture can result in displacement of the heart and is associated with high mortality. Clinical presentation is non-specific and requires a high index of suspicion for early management.
Case presentation:
A 4-year-old child presented to the emergency unit of our hospital following high-energy trauma with severe respiratory distress. Initially, a left-side chest tube was inserted, but it resulted in no clinical improvement. A chest x-ray showed a collapse of the left lung with a herniation of bowel loops into the left hemithorax. An exploratory laparotomy was done, which revealed a 10 cm × 4 cm defect in the left hemidiaphragm with a medial extension involving the pericardium. The fundus of the stomach and left lobe of the liver were displaced into the pericardial space, pushing the cardiac apex posteriorly to the right side. Concomitantly, the transverse colon and small bowel were displaced into the left pleural space. After the reduction of the herniated abdominal viscera back into the peritoneal cavity, the pericardial sac was repaired by employing an interrupted resorbable suture, while the diaphragmatic defect was repaired by using a horizontal mattress. No other injuries were identified and the abdomen was closed in layers.
Conclusion:
BTDR with pericardial rupture is an elusive condition with a high mortality rate that necessitates a high index of clinical suspicion. Early surgical repair of the defect with a reduction of herniated organs can reduce morbidity and mortality.
Combined treatment of umbilical cord Wharton's jelly-derived mesenchymal stem cells and platelet-rich plasma for a surgical patient with hospital-acquired pressure ulcer: a case report and literature review
Authors: Changhui Zhou, Linlin Jiao, Xiaoping Qiao, Weiwei Zhang, Shuangfeng Chen, Chunling Yang, Min Meng
Journal: Front Bioeng Biotechnol (2024)
Keywords: hospital-acquired pressure ulcers, mesenchymal stem cells, platelet-rich plasma, transplantation, treatment
MeSH terms: Case Reports

Hospital-acquired pressure ulcers (HAPUs) are still an important worldwide issue related to the safety and quality of patient care, which are among the top five adverse events reported. Patients who develop HAPUs have longer stays in the hospital than necessary, are at a greater risk of infections, and are more likely to die. Surgical patients are prone to developing PUs because they often remain immobile for extended periods of time, and their surgical procedures may limit the flow of blood oxygen and nutrition and lead to a decrease in muscle tone. Mesenchymal stem cells (MSCs) represent an attractive stem cell source for tissue regeneration in clinical applications, which have been demonstrated to improve wound healing through re-epithelialization, increased angiogenesis, and granulation tissue formation. Here, we present the case of an emergency surgical patient who developed an ulcer on the right heel during hospitalization. The human umbilical cord Wharton's jelly-derived MSCs (WJ-MSCs) re-suspended in platelet-rich plasma (PRP) were injected into ulcer margins. Four days after the WJ-MSC application, the patient showed progressive healing of the PU. From days 4 to 33, granulation tissue formation and re-epithelialization were clearly observed. The ulcer was almost healed completely on day 47, and the pain in the patient's wound area also decreased. Thus, intradermal transplantation of WJ-MSCs and PRP was safe and effective for treatment in patients with pressure ulcers. WJ-MSCs, together with PRP, may offer a promising treatment option for wound healing.