OpenMed/multicare-articles huggingface dataset:
Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation
Authors: Juliane Weber, Lars Frings, Michel Rijntjes, Horst Urbach, Judith Fischer, Cornelius Weiller, Philipp T Meyer, Stephan Klebe
Journal: Front Neurol (2019)
Keywords: fdg-pet, vps13a, autosomal recessive epilepsy, chorea-acanthocytosis, genome sequencing, neuro-acanthocytosis
MeSH terms: Case Reports

Chorea-acanthocytosis (ChAc) is a rare, adult-onset disease usually characterized by, hence the name, a movement disorder and acanthocytosis in the blood. It is caused by mutations of the VPS13A gene with an autosomal recessive transmission. We report a consanguineous Turkish family with a different and informative clinical and diagnostic course. Three siblings developed seizures and the index patient had been diagnosed with bilateral temporal lobe epilepsy. A key finding, however, was the basal ganglia involvement in neuroimaging although no movement disorder was present. [18F]FDG-PET showed a prominent decline in striatal glucose metabolism at 31 years of age and [123I]FP-CIT-SPECT revealed a moderate loss of striatal dopamine transporter availability. The family was referred for genetic testing and exome sequencing detected a homozygous novel truncating mutation c.4326 T>A (p.Tyr1442*) in VPS13A in all affected siblings. With this case, we present autosomal recessive epilepsy as the predominant phenotype of ChAc with a new homozygous VPS13A mutation and provide pathological structural and molecular neuroimaging findings.
The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome
Authors: Eva Pauline Macheroux, Matthias C Braunisch, Stephanie Pucci Pegler, Robin Satanovskij, Korbinian M Riedhammer, Roman Günthner, Oliver Gross, Mato Nagel, Lutz Renders, Julia Hoefele
Journal: Front Pediatr (2019)
Keywords: alport syndrome, col4a5, esrd, hearing impairment, pgly624asp
MeSH terms: Case Reports

Background: Alport syndrome (AS) is a progressive kidney disorder leading to end stage renal disease (ESRD). Extrarenal symptoms like hearing loss and ocular changes can be observed. Approximately 85% of the patients carry pathogenic variants in COL4A5 (X-linked inheritance). The variant c.1871G>A, p.(Gly624Asp) in COL4A5 is described in the literature as a hypomorphic variant associated with thin basement membrane nephropathy (TBMN). ESRD was only seen rarely at a median age of 50 years and extrarenal manifestations have only been described in single cases. Case report and Methods: This is a report on a family with X-linked AS. In the female index patient, microscopic hematuria, and proteinuria were observed beginning at the age of 20 years and 41 years, respectively. Microscopic hematuria was also present in the daughter (from 6th month of life), the son (from 22nd month of life), the mother and the maternal grandniece. Proteinuria was observed in the maternal aunt and paternal grandmother. The father of the index patient, a paternal uncle and a second cousin presented with ESRD at the age of 49, 34, and 70 years of life, respectively. Extrarenal manifestations were absent in the whole family. In the index patient, her children and her mother molecular diagnostics were performed using Sanger and exome sequencing. Results: In all examined family members the variant c.1871G>A, p.(Gly624Asp) in COL4A5 was identified. With the exception of the index patient, who was homozygous for this variant, all family members carried the variant heterozygously, or hemizygously. A different or additional monogenic hereditary nephropathy could not be detected by exome sequencing of the index patient. Discussion: This is the first report of a patient with the variant p.(Gly624Asp) in COL4A5 in a homozygous state. The variant was previously reported as a mild variant requiring dialysis in less than 10%. The family presented, however, with a more severe clinical course. We therefore suggest to question the term "hypomorphic" in the context of the variant p.(Gly624Asp) although molecular diagnostics could not be done in all affected family members.
A 64-year-old woman with rapid neurologic decline diagnosed with Toxoplasma encephalitis after presumed metastatic cancer
Authors: Claudia Rosso, Lisa Giscombe, Toufic Tannous, Matthew Keating
Journal: SAGE Open Med Case Rep (2021)
Keywords: hiv, toxoplasmosis, anemia, metastatic, ring-enhancing lesion
MeSH terms: Case Reports

In an era of fragmented medical care, concurrent clinical features that ultimately lead to a unified diagnosis may not be prioritized appropriately. We present a case of a 64-year-old woman referred to hematology clinic for anemia, with recent memory loss and gait disturbance. Two months later, she developed pneumonia; imaging workup showed a left renal mass. Neurologic function continued to decline precluding definitive nephrectomy. She then presented with new-onset seizure and initial neuro-imaging was reported as unremarkable. One month later, outpatient neurologic workup demonstrated new left-sided weakness which prompted hospitalization and repeat neuro-imaging, which showed a 1.7-cm right frontal lobe mass lesion with surrounding vasogenic edema. The patient ultimately underwent craniotomy with resection of the mass lesion; pathology did not show metastatic renal cell cancer, the provisional clinical diagnosis. Rather, immunostaining revealed a parasite and ultimately led to a diagnosis of Toxoplasma encephalitis, an infection whose clinical presentation had been interpreted by healthcare providers for months to be a result of metastatic cancer.
Bali Belly: Salmonella senftenberg Found in an Infected Ovarian Endometrioma
Authors: P D M Pathiraja, Junaid Rafi, Emily Woolnough, Anna Clare
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Salmonella is an extremely rare cause of an infected endometrioma. We present a case of a 30-year-old immunocompetent woman presenting with fevers and abdominal pain, on a background of prior endometriosis. Initial antibiotic treatment for pelvic inflammatory disease failed, and the patient progressed to septic shock requiring surgical evacuation of an infected ovarian endometrioma. Microbiological samples from stool, ovary, and peritoneal fluid revealed infection with Salmonella senftenberg. The likely diagnosis was Salmonella enterocolitis with bacterial translocation to an ovarian endometrioma.
Case Report: "Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy"
Authors: M van Verseveld, L H Koens, Tom J de Koning, R L E Derikx, J A van Waarde
Journal: Front Psychiatry (2021)
Keywords: niemann-pick type c, catatonia, electroconvulsive therapy, inborn errors of metabolism, seizure threshold
MeSH terms: Case Reports

We describe a case of an adolescent male with Niemann-Pick Type C (NP-C), a neurodegenerative lysosomal lipid storage disorder, who presented with recurrent catatonia which required repeated treatment with electroconvulsive therapy (ECT). During the ECT-course, seizure threshold increased substantially, leading to questions about the influence of NP-C on neuronal excitability. In this exemplary ECT-patient, NP-C was diagnosed not until after the first ECT-course when initial psychopharmacology for catatonia had failed and antipsychotics and benzodiazepines showed significant side-effects. Clinicians should be aware of NP-C in patients referred for ECT, especially in the case of treatment resistance, neurological symptoms and intolerance of psychopharmacological drugs. As was shown in our NP-C patient, ECT can be repeatedly effective for catatonic features. In the literature, effectiveness of ECT in patients with NP-C has sparsely been reported. This case demonstrates that detection of NP-C is beneficial for patients because more optimal treatment with ECT can be provided earlier without further exposure to side-effects.
Case report: Dynamic antibody monitoring in a case of anti-recombinant human erythropoietin-mediated pure red cell aplasia with prolonged course after kidney transplantation
Authors: Xiao-Mei Chen, Hui Li, Yu Wu, Lan-Lan Wang, Yang-Juan Bai, Yun-Ying Shi
Journal: Front Immunol (2022)
Keywords: anti-erythropoietin (anti-epo) antibody, immunosuppressive therapy, kidney transplant, pure red cell aplasia, roxadustat
MeSH terms: Kidney Transplantation / adverse effects, Red-Cell Aplasia, Pure / drug therapy, Red-Cell Aplasia, Pure / etiology, Case Reports, Research Support, Non-U.S. Gov't, Antibodies, Cyclosporine / therapeutic use, Humans, Immunosuppressive Agents / therapeutic use, Male, Prednisone / therapeutic use, Recombinant Proteins / therapeutic use, Sirolimus / therapeutic use, Prednisone, Antibodies, Immunosuppressive Agents, Recombinant Proteins, Cyclosporine, Sirolimus

Anti-erythropoietin (anti-EPO) antibody-mediated pure red cell aplasia (PRCA) is a rarely seen disease. Anti-EPO antibodies were mostly found in patients with chronic kidney disease who received recombinant human erythropoietin (rHuEPO) injections subcutaneously. The treatment against anti-EPO antibody-mediated PRCA included discontinuation of rHuEPO, immunosuppressive agents, intravenous immunoglobulin, plasmapheresis, or kidney transplantation. We reported a case of kidney transplant recipient with anti-EPO antibody-mediated PRCA, who had no trend of recovery after stopping rHuEPO, receiving regular induction and maintenance immunosuppressive regimens. He was further given 6 consecutive plasmapheresis sessions, cyclophosphamide, and adjusted maintenance immunosuppressive regimen into cyclosporine, sirolimus and prednisone. We monitored his anti-EPO antibody levels with a self-created simple mixing test. At 10 months post kidney transplant, his anti-EPO antibody finally turned negative, and his reticulocyte count dramatically increased. Cyclosporine, sirolimus and prednisone combined with roxadustat eventually alleviated the patient's anti-EPO antibody-mediated PRCA. Our self-created simple mixing test for anti-EPO antibody titer was very helpful in disease monitoring and therapeutic guidance.
Visual-Evoked-Response-Supported Outcome of Intravitreal Erythropoietin in Management of Indirect Traumatic Optic Neuropathy
Authors: Mohammad Ahmad Rashad, Ahmed Abdel Meguid Abdel Latif, Hazem A Mostafa, Samah Mahmoud Fawzy, Mahmoud Abdel Meguid Abdel Latif
Journal: J Ophthalmol (2018)

Purpose:
Investigating the efficacy of intravitreal injection of erythropoietin (EPO) in managing indirect traumatic optic neuropathy (ITON) of different durations.
Methods:
A case series that included two groups of ITON patients: recent ITON group (<3 months trauma duration; 7 eyes) and old duration ITON group (3-36 months; 7 eyes). Diagnostic computerized tomography (CT) and baseline flash visual evoked response (VER) were performed at the presentation time. At the initial visit and each follow-up, all patients had undergone assessment of best-corrected visual acuity (BCVA), pupil reaction, and anterior and posterior segments. VER was repeated 1 and 3 months after injection. All patients received an intravitreal injection of 2000 IU EPO in 0.2 ml of commercially available sterile EPREX 4000 solution, Jansen Cilag, Zug, Switzerland. Five patients had received a second injection 3 months later.
Results:
Significant improvement was found in BCVA, VER amplitude, and latency (P < 0.0001, 0.0154, and 0.0291, respectively). Initial values of BCVA, VER amplitude, and latency correlated significantly to the final values. Differences between recent and old trauma groups were insignificant in the three parameters. In patients who received second injection, further clinical but statistically insignificant improvement was noted in BCVA in 60% of patients, VER amplitude in 50% of patients, and in VER latency in 100% of patients. No complications were recorded.
Conclusion:
Intravitreal injection of EPO may be effective and safe in treatment of recent and old indirect traumatic optic neuropathy.
Humoral Hypercalcemia of Malignancy with a Parathyroid Hormone-Related Peptide-Secreting Intrahepatic Cholangiocarcinoma Accompanied by a Gastric Cancer
Authors: Katsushi Takeda, Ryosuke Kimura, Nobuhiro Nishigaki, Shinya Sato, Asami Okamoto, Kumiko Watanabe, Sachie Yasui
Journal: Case Rep Endocrinol (2017)
MeSH terms: Case Reports

Humoral hypercalcemia of malignancy (HHM) is caused by the oversecretion of parathyroid hormone-related peptide (PTHrP) from malignant tumors. Although any tumor may cause HHM, that induced by intrahepatic cholangiocarcinoma (ICC) or gastric cancer (GC) is rare. We report here a 74-year-old male who displayed HHM with both ICC and GC and showed an elevated serum PTHrP level. Treatment of the hypercalcemia with saline, furosemide, elcatonin, and zoledronic acid corrected his serum calcium level and improved symptoms. Because treatment of ICC should precede that of GC, we chose chemotherapy with cisplatin (CDDP) and gemcitabine (GEM). Chemotherapy reduced the size of the ICC and decreased the serum PTHrP level. One year after diagnosis, the patient was alive in the face of a poor prognosis for an ICC that produced PTHrP. Immunohistochemical staining for PTHrP was positive for the ICC and negative for the GC, leading us to believe that the cause of the HHM was a PTHrP-secreting ICC. In conclusion, immunohistochemical staining for PTHrP may be useful in discovering the cause of HHM in the case of two cancers accompanied by an elevated serum PHTrP level. Chemotherapy with CDDP and GEM may be the most appropriate treatment for a PTHrP-secreting ICC.
Scedosporium prolificans Septic Arthritis and Osteomyelitis of the Hip Joints in an Immunocompetent Patient: A Case Report and Literature Review
Authors: Luca Daniele, Michael Le, Adam Franklin Parr, Lochlin Mark Brown
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Scedosporium prolificans, also known as Scedosporium inflatum, is a fungus widespread in soil, sewage, and manure. This species is highly virulent and is an emerging opportunistic pathogen found in penetrating injuries in immunocompromised patients. Here we report on an immunocompetent patient with bilateral hip S. prolificans-associated osteomyelitis and septic arthritis caused by intentional penetrating trauma. The condition was refractory to initial antimicrobial suppression and surgical irrigation and debridement. Successful outcome was achieved after incorporating a bilateral two-stage total-hip-arthroplasty with Voriconazole-loaded cement and spacer.
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis
Authors: Alessandro De Falco, Daniele De Brasi, Matteo Della Monica, Claudia Cesario, Stefano Petrocchi, Antonio Novelli, Giuseppe D'Alterio, Achille Iolascon, Mario Capasso, Carmelo Piscopo
Journal: Genes (Basel) (2023)
Keywords: cornelia de lange type 4, rad21, genotype/phenotype correlation, in silico analysis, prenatal growth retardation
MeSH terms: Cleft Palate, De Lange Syndrome / diagnosis, De Lange Syndrome / genetics, Hypertrichosis, Case Reports, Cell Cycle Proteins / genetics, DNA-Binding Proteins / genetics, Female, Humans, Phenotype, Cell Cycle Proteins, RAD21 protein, human, DNA-Binding Proteins

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects many organs. The diagnosis of this condition is primarily clinical and it can be confirmed by molecular analysis of the genes known to cause this disease, although about 30% of CdLS patients are without a genetic diagnosis. Here we report clinical and genetic findings of a patient with CdLS type 4, a syndrome of which the clinical features of only 30 patients have been previously described in the literature. The index patient presented with clinical characteristics previously associated with CdLS type 4 (short nose, thick eyebrow, global development delay, synophrys, microcephaly, weight < 2DS, small hands, height < 2DS). She also presented cardiac anomalies, cleft palate and laryngomalacia, which was never described before. The index patient was diagnosed with a novel de novo&nbsp;RAD21 variant (c.1722_1723delTG, p.Gly575SerfsTer2): segregation analysis, bioinformatic analysis, population data and in silico structural modelling indicate the pathogenicity of the novel variant. This report summarizes previously reported clinical manifestations of CdLS type 4 but also highlights new clinical symptoms, which will aid correct counselling of future CdLS type 4 cases.
A case report of toxic epidermal necrolysis (TEN) in a patient with COVID-19 treated with hydroxychloroquine: are these two partners in crime?
Authors: Carlo Maria Rossi, Flavio Niccolò Beretta, Grazia Traverso, Sandro Mancarella, Davide Zenoni
Journal: Clin Mol Allergy (2020)
Keywords: alden algorithm, adverse drug reaction (adr), covid 19, hydroxychloroquine, pharmacovigilance, sars-cov- 2, scorten score, severe cutaneous adverse reactions (scar), stevens–johnson syndrome (sjs), toxic epidermal necrolysis (ten)
MeSH terms: Case Reports

Background:
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN) is the most Serious Cutaneous Adverse Reaction (SCAR) often with a fatal outcome. Coronavirus Disease (COVID-19) is caused by Severe Acute Respiratory Syndrome-Coronavirus-2 (SARS-COV2) and is an emergent pandemic for which no cure exist at the moment. Several drugs have been tried often with scant clinical evidence and safety.
Case presentation:
Here we report the case of 78-years-old woman with cardiometabolic syndrome and COVID-19. A multidrug regimen including others hydroxychloroquine, antibiotics, dexamethasone and paracetamol, low-molecular-weight-heparin and potassium canrenoate was started. After almost 3 weeks, the patient started to display a violaceous rash initially involving the flexural folds atypical targetoid lesions and showing a very fast extension, blister formation and skin detachments of approximately 70% of the total body surface area and mucous membranes involvement consistent with toxic epidermal necrolysis (TEN). The ALDEN algorithm was calculated inserting all drugs given to the patient in the 28 days preceding the onset of the skin manifestations. The highest score retrieved was for hydroxychloroquine. Other less suspicious drugs were piperacillin/tazobactam, ceftriaxone and levofloxacin.
Conclusions:
To our knowledge, this is the first case of TEN in a patient suffering from COVID-19 probably associated with hydroxychloroquine. Given the activation of the immune system syndrome induced by the virus and the widespread off-label use of this drug, we suggest a careful monitoring of skin and mucous membranes in all COVID-19 positive patients treated with hydroxychloroquine in order to early detect early signs of toxicities.
Hemophagocytic Lymphohistiocytosis in an AIDS Patient with Kaposi Sarcoma: A Treatment Dilemma
Authors: Oluwadunni E Emiloju, Sorab Gupta, Vivian Arguello-Guerra, Claudia Dourado
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Hemophagocytic lymphohistiocytosis (HLH) is a result of an abnormal activation of immune cells (T lymphocytes, natural killer cells, and macrophages) resulting in cytokine overproduction and immune destruction of cells, eventually resulting in multiorgan failure. Genetic causes are responsible for primary hemophagocytosis, but malignancies, infections, and autoimmunity underlie most of the secondary cases. We present an unusual case of a patient with AIDS and disseminated Kaposi sarcoma who was commenced on highly active antiretroviral therapy (HAART) but developed HLH secondary to immune reconstitution inflammatory syndrome (IRIS). We report this case to highlight the difficulty in managing this patient given the complex interplay of immunosuppression due to AIDS, immune reconstitution following initiation of HAART, and immune overdrive manifesting as HLH.
Notes concerning the peritonitis of urinary aetiology
Authors: Dan Mischianu, Ovidiu Bratu, Cristian Ilie, Victor Madan
Journal: J Med Life (2008)
MeSH terms: Peritonitis / etiology, Ureteral Diseases / complications, Urinary Bladder Diseases / complications, Case Reports, Abdominal Injuries / complications, Female, Humans, Male, Middle Aged, Peritoneal Cavity, Peritonitis / diagnostic imaging, Peritonitis / surgery, Rupture, Tomography, X-Ray Computed, Ureteral Diseases / diagnostic imaging, Ureteral Diseases / surgery, Urinary Bladder Diseases / diagnostic imaging, Urinary Bladder Diseases / surgery, Urine

Urinary peritonitis (the uroperitoneum) is categorized as a difficult to diagnose clinical entity due to its poor manifestations. Vesical trauma following pelvis bone fracture is the most frequently involved in the uroperitoneum aetiology, followed by spontaneous vesical rupture and intraoperative iatrogenic lesions. One of the most important and constant signs that can occur is diffuse abdominal tension, without tenderness. The imagistic procedure that sets the diagnosis is retrograde cystography showing intraperitoneal urine effusion. Vesical rupture is a surgical emergency. The uroperitoneum is a particular type of peritonitis that has hidden and misleading symptoms which can delay the diagnosis long enough to endanger the patient's life.
Pharmacokinetic/Pharmacodynamic Dosage Individualization of Suppressive Beta-Lactam Therapy Administered by Subcutaneous Route in Patients With Prosthetic Joint Infection
Authors: Sylvain Goutelle, Anne Conrad, Cécile Pouderoux, Evelyne Braun, Frédéric Laurent, Marie-Claude Gagnieu, Sabine Cohen, Jérôme Guitton, Florent Valour, Tristan Ferry
Journal: Front Med (Lausanne) (2021)
Keywords: antimicrobial therapy, beta-lactam, pharmacodynamics, pharmacokinetics, prosthetic-joint infection, subcutaneous administration

Suppressive parenteral antibiotic therapy with beta-lactams may be necessary in patients with Gram-negative bone and joint infection (BJI). Subcutaneous drug administration can facilitate this therapy in outpatient setting, but there is limited information about this practice. We have developed an original approach for drug dosing in this context, based on therapeutic drug monitoring (TDM) and pharmacokinetic/pharmacodynamic (PK/PD) principles. The objective of this study was to describe our approach and its first results in a case series. We analyzed data from patients who received suppressive antibiotic therapy by subcutaneous (SC) route with beta-lactams as salvage therapy for prosthetic joint infection (PJI) and had TDM with PK/PD-based dose adjustment. Ten patients (six women and four men with a mean age of 77 years) were included from January 2017 to May 2020. The drugs administered by SC route were ceftazidime (n = 4), ertapenem (n = 4), and ceftriaxone (n = 2). In each patient, PK/PD-guided dosage individualization was performed based on TDM and minimum inhibitory concentration (MIC) measurements. The dose interval could be prolonged from twice daily to thrice weekly in some patients, while preserving the achievement of PK/PD targets. The infection was totally controlled by the strategy in nine out the 10 patients during a median follow-up of 1,035 days (~3 years). No patient acquired carbapenem-resistant Gram-negative bacteria during the follow-up. One patient presented treatment failure with acquired drug resistance under therapy, which could be explained by late MIC determination and insufficient exposure, retrospectively. To conclude, our innovative approach, based on model-based TDM, MIC determination, and individualized PK/PD goals, facilitates, and optimizes suppressive outpatient beta-lactam therapy administered by SC route for PJI. These encouraging results advocate for larger clinical evaluation.