OpenMed/multicare-articles huggingface dataset:
Autologous Chondrocyte Implantation With Collagen Membrane Using a Knotless Suture Bridge Technique
Authors: Toshihiro Seki, Kazushige Seki, Takashi Imagama, Tomoya Okazaki, Takashi Sakai
Journal: Cureus (2024)
Keywords: aci, autologous chondrocyte implantation, bioabsorbable anchor, biological cartilage repair, chondral lesion, collagen membrane, suture bridge technique
MeSH terms: Case Reports

Autologous chondrocyte implantation (ACI) has been covered by insurance in Japan since April 2013, expanding the range of treatments for extensive knee cartilage damage. Initially, the periosteum was used for the fixation of cultured cartilage, but since February 2019, the introduction of collagen membranes has shortened surgery time and simplified the procedure. We report a case where we used the knotless suture bridge technique for a more straightforward and secure fixation with a collagen membrane. The patient was a 61-year-old male who experienced right knee pain a year earlier when stepping downstairs. Conservative treatment at a local hospital was ineffective, and he was referred to our department. At the initial examination, the right knee had an extension of -5° and a flexion of 130°. A simple X-ray of the right knee showed osteosclerosis with a translucent bone image at the medial femoral condyle. Weight-bearing full-length X-ray of the lower limb showed a femorotibial angle (FTA) of 186°, a hip-knee-ankle (HKA) angle of 12.5° varus, a percentage of mechanical axis (%MA) of 15%, and a medial proximal tibial angle (MPTA) of 78°, indicating a significant varus deformity. CT and MRI revealed a cartilage defect of 36 mm in length and 16 mm in width and a bone defect with a maximum depth of 15 mm at the medial femoral condyle. The patient underwent surgery for a traumatic cartilage defect of the medial femoral condyle. For the bone defect, autologous bone grafting was performed, and for the cartilage defect, ACI was done. The ACI involved fixation with a collagen membrane using 1.3 mm suture tape and BC PushLock anchor (Arthrex, Naples, Florida, United States) in a knotless suture bridge technique. Additionally, hybrid closed-wedge high tibial osteotomy (HCWHTO) was performed for alignment correction. At eight months post surgery, MRI proton density sagittal images confirmed the joint surface by the cartilage layer, and the Modified Outerbridge Cartilage Repair Assessment (MOCART) score was 80. At 12 months post surgery, the Japanese version of the Knee Injury and Osteoarthritis Outcome Score (J-KOOS) improved from 46.43 to 82.14 for symptoms, 58.33 to 83.33 for pain, 95.59 to 100 for activities of daily living (ADL), 45 to 75 for sports, and 68.75 to 87.50 for quality of life (QOL). X-rays showed an FTA of 173°, an HKA of 0°, and a %MA of 58%, indicating a favorable course. The knotless suture bridge technique for collagen membrane fixation during ACI is considered a convenient and time-saving method.
Safe long-term therapy of Cushing's syndrome over 37 years with mitotane
Authors: Jonas Seibold, Mario Hönemann, Anke Tönjes, Benjamin Sandner
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: cushing’s syndrome, adrenostatic drug, long-term treatment, mitotane, pregnancy
MeSH terms: Cushing Syndrome / drug therapy, Drug-Related Side Effects and Adverse Reactions, Pituitary ACTH Hypersecretion, Case Reports, Review, Research Support, Non-U.S. Gov't, Female, Humans, Mitotane / therapeutic use, Pregnancy, Mitotane

While suggested, surgery is not always possible as a first-line treatment of Cushing's Disease (CD). In such cases, patients require medical therapy in order to prevent complications resulting from hypercortisolism. Although there has been a wide expansion in pharmacological options in recent years, mitotane was the agent of choice for treating hypercortisolism decades ago. Due to the introduction of other therapies, long-term experience with mitotane remains limited. Here, we report the case of a woman with CD who was treated with mitotane for 37 years. During the treatment period, biochemical and clinical disease control was achieved and the patient had two uncomplicated pregnancies. Drug-related side effects remained moderate and could be controlled by several dose adjustments. Our case highlights the ability of mitotane to allow an effective control of hypercortisolism and to represent a safe treatment option in special situations where CD requires an alternative therapeutic approach. Furthermore, we provide a literature review of the long-term use of mitotane and reported cases of pregnancy in the context of mitotane therapy.
Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII
Authors: Fengge Wang, Xuemei Jin, Yongning Zhu, Shuli Jiang, Xiaoyan Zhang, Yanping Wang, Dongmei Man, Fuling Wang
Journal: Front Pediatr (2024)
Keywords: trpv4, bilateral clubfoot, c805c>t, distal hereditary motor, gene mutation, neuronopathy, parg269cys, type viii
MeSH terms: Case Reports

Neuronopathy, distal hereditary motor, type VIII is an exceedingly rare autosomal dominant genetic disorder, also known as congenital non-progressive distal spinal muscular atrophy. It is characterized by progressive weakness in distal motor function and atrophy of muscles, without accompanying sensory impairment. Presently, there is limited literature on this condition, and accurate epidemiological data regarding its incidence remains unavailable. We report a paediatric case of distal hereditary motor, type VIII that is caused by a heterozygous missense mutation in the TRPV4 gene (NM_021625): c.805C>T. The proband is a 7-year-old male child. During pregnancy, his mother had prenatal ultrasound revealing "inward turning of the feet", a condition persisting after birth. The proband is currently unable to stand independently, exhibiting bilateral clubfoot deformity. Although possessing normal cognitive function, he cannot walk unaided. Computed radiography findings reveal pelvic tilt, bilateral knee joint valgus, and bilateral clubfoot. The patient underwent familial exome sequencing, revealing a mutation in the TRPV4 gene (NM_021625): c.805C>T (p.Arg269Cys). Considering the patient's medical history, clinical manifestations, imaging studies, and genetic test results, the diagnosis for this individual is Neuronopathy, distal hereditary motor, type VIII. This report documents a case involving the TRPV4 gene mutation associated with Neuronopathy, distal hereditary motor, type VIII, contributing valuable case reference for the early diagnosis of this condition.
Intussusception of Gastrojejunostomy After Pancreatoduodenectomy With Billroth II Reconstruction
Authors: Alejandro Martinez-Esteban, Natalia M Barron-Cervantes, Pablo Avila-Sanchez, Carlos Chan-Nuñez
Journal: Cureus (2024)
Keywords: cholangiocarcinoma, complication, gastrojejunostomy, hepatobiliary, intussusception, pancreaticoduodenectomy, small bowel obstruction, whipple’s procedure
MeSH terms: Case Reports

Gastrojejunal anastomosis or gastrojejunostomy (GJ) is a surgical procedure used for allowing gastric emptying, especially in cases where complex reconstructions are needed. One of the less common complications but one of the most relevant in morbidity is the intussusception of the GJ. It requires a high index of suspicion, preoperative optimization of the patient, diagnostic corroboration, and identification of associated complications with the use of contrasted imaging. It was described for the first time by Bozzi in 1914; currently, multiple cases have been described in the literature, being more frequent in bariatric surgeries and reconstructions after distal gastrectomy. In hepatopancreaticobiliary surgery, it is an even uncommon complication. We present the case of a 60-year-old man with intussusception of the efferent loop of the GJ after a pylorus-preserving pancreatoduodenectomy with a Billroth II reconstruction in the setting of malignancy of the extrahepatic bile duct along with our emergency surgical treatment.
Myelotoxicity and kidney dysfunction related to the use of trimethoprim-sulfamethoxazole for the treatment of Pneumocystis jirovecii pneumonia: a case report of severe adverse events with a common drug
Authors: Isabel Cristina Melo Mendes, Roxana Flores Mamani, David Richer Araujo Coelho, Clarisse Pimentel
Journal: Rev Inst Med Trop Sao Paulo (2024)
MeSH terms: Acidosis / chemically induced, Acidosis / complications, Acidosis / drug therapy, Hyperkalemia / chemically induced, Hyperkalemia / complications, Hyperkalemia / drug therapy, Pneumocystis carinii, Pneumonia, Pneumocystis / chemically induced, Pneumonia, Pneumocystis / drug therapy, Case Reports, Humans, Kidney, Male, Retrospective Studies, Trimethoprim, Sulfamethoxazole Drug Combination / therapeutic use, Trimethoprim, Sulfamethoxazole Drug Combination

Trimethoprim-sulfamethoxazole (TMP-SMX) is the primary therapeutic option for Pneumocystis jirovecii pneumonia (PCP). Gastrointestinal symptoms and cutaneous rash are common side effects, with hyperkalemia being uncommon in patients without kidney dysfunction, and myelotoxicity being even rarer. We present the case of a male patient with hypertension and a recent diagnosis of non-Hodgkin lymphoma, undergoing rituximab treatment for two months. He was admitted to the intensive care unit due to dyspnea, tachypnea, and pleuritic pain, requiring mechanical ventilation. Chest computed tomography showed bilateral and multilobed ground-glass opacities, compromising more than 80% of the lung parenchyma. Pulmonary tuberculosis and COVID-19 were ruled out. An angiotomography and Doppler ultrasound revealed an extensive pulmonary thrombus and deep venous thrombosis. Empiric treatment with TMP-SMX for PCP was initiated, but within four days, the patient experienced metabolic acidosis and severe hyperkalemia, necessitating hemodialysis. He also presented with progressive pancytopenia and critical levels of leukopenia and thrombocytopenia. The hypothesis of TMP-SMX-induced myelotoxicity was suspected. Considering the unavailability of an alternative treatment, it was opted to continue TMP-SMX and initiate a granulocyte-colony-stimulating factor. However, the patient maintained medullary deterioration, becoming refractory to the transfusion of blood derivates. On the 17th day of treatment, a clinical decision was made to suspend TMP-SMX, leading to improvements within 48 hours in marrow and kidney functions, metabolic acidosis, and hyperkalemia. Despite all efforts, the patient died after 35 days of hospitalization due to hospital-acquired infections. This case highlights the importance of clinicians recognizing potential myelotoxicity with TMP-SMX and promptly discontinuing the drug if necessary.
Case report: abemaciclib-induced syndrome of inappropriate antidiuretic hormone (SIADH) without underlying kidney injury in a patient with early-stage estrogen receptor (ER)+ breast cancer
Authors: Neil Carleton, Julia Foldi
Journal: Front Med (Lausanne) (2024)
Keywords: abemaciclib, er+ breast cancer, siadh, early-stage breast cancer, hyponatremia
MeSH terms: Case Reports

The CDK4/6 inhibitor, abemaciclib, is now the standard of care adjuvant therapy for patients with estrogen receptor-positive (ER+)/human epidermal growth factor receptor 2-negative (HER2-) tumors at high risk of recurrence. Real-world usage uncovers emerging side effects that may have been previously unreported in clinical trials. Here, we present the clinical course of a patient who developed a syndrome of inappropriate antidiuretic hormone (SIADH) without underlying kidney injury due to abemaciclib use.
A Primary Telangiectatic Mandibular Osteosarcoma With Germ-Line Malignancy-Associated DNA Damage Repair Gene Polymorphisms: A Case Report
Authors: Muhammad Tahir, Eric X Wei, Carlina Madelaire, Alice S Yu, Guillermo A Herrera, Rodney E Shackelford
Journal: Case Rep Oncol Med (2024)
MeSH terms: Case Reports

Primary mandibular telangiectatic osteosarcomas are very rare lesions, with only nine cases reported. Histologically, these lesions show multiple cystic blood-filled cavities traversed by neoplastic bone in septa lined by high-grade malignant cells. Here, we report an 81-year-old woman who presented with a mandibular mass, which was surgically resected and analyzed by histologic examination and whole exome DNA sequencing. A diagnosis of telangiectatic osteosarcoma was given. Comparative sequencing data analysis of paired benign and tumor DNA revealed 1577 variants unique to the tumor DNA, which clustered into several gene families, including those regulating DNA repair and apoptosis. Comparison of benign and tumor DNA revealed many shared gene polymorphisms associated with an increased cancer risk. These included polymorphisms in the ATM, p53, BRCA1, and BRCA2 and many other genes. Interestingly, the patient's family history showed an unusually high cancer incidence, likely related to these cancer risk-associated polymorphisms. To our knowledge, this is the first-time sequencing applied to a mandibular telangiectatic osteosarcoma. Our findings may shed light on the molecular origins of these rare tumors and how they may relate to other tumors in related kindreds.
Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia
Authors: Herodes Guzman, Sahr Yazdani, Jennifer L Harmon, Kimberly A Chapman, Bernadette Vitola, Louise Pyle, Heather McKnight, Winnie Sigal, Katherine Lord, Diva D De Leon, Nadia Merchant, Rebecca Ganetzky
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: dguok, exome, hyperinsulinism, hypoglycemia, mitochondria
MeSH terms: Cholestasis, Hyperinsulinism, Hypoglycemia / complications, Hypoglycemia / diagnosis, Hypoglycemia / genetics, Liver Failure / genetics, Case Reports, DNA, Mitochondrial / genetics, Humans, Infant, Newborn, Mutation, DNA, Mitochondrial, deoxyguanosine kinase, Deoxyguanosine Kinase Deficiency

Timely diagnosis of persistent neonatal hypoglycemia is critical to prevent neurological sequelae, but diagnosis is complicated by the heterogenicity of the causes. We discuss two cases at separate institutions in which clinical management was fundamentally altered by the results of molecular genetic testing. In both patients, critical samples demonstrated hypoketotic hypoglycemia and a partial glycemic response to glucagon stimulation, thereby suggesting hyperinsulinism (HI). However, due to rapid genetic testing, both patients were found to have deoxyguanosine kinase (DGUOK)-related mitochondrial DNA depletion syndrome, an unexpected diagnosis. Patients with this disease typically present with either hepatocerebral disease in the neonatal period or isolated hepatic failure in infancy. The characteristic features involved in the hepatocerebral form of the disease include lactic acidosis, hypoglycemia, cholestasis, progressive liver failure, and increasing neurologic dysfunction. Those with isolated liver involvement experience hepatomegaly, cholestasis, and liver failure. Although liver transplantation is considered, research has demonstrated that for patients with DGUOK-related mitochondrial DNA depletion syndrome and neurologic symptoms, early demise occurs. Our report advocates for the prompt initiation of genetic testing in patients presenting with persistent neonatal hypoglycemia and for the incorporation of mitochondrial DNA depletion syndromes in the differential diagnosis of HI.
Acral cutaneous malignant melanoma treated with linear accelerator-based boron neutron capture therapy system: a case report of first patient
Authors: Hiroshi Igaki, Satoshi Nakamura, Naoya Yamazaki, Tomoya Kaneda, Mihiro Takemori, Tairo Kashihara, Naoya Murakami, Kenjiro Namikawa, Tetsu Nakaichi, Hiroyuki Okamoto, Kotaro Iijima, Takahito Chiba, Hiroki Nakayama, Ayaka Nagao, Madoka Sakuramachi, Kana Takahashi, Koji Inaba, Kae Okuma, Yuko Nakayama, Kazuaki Shimada, Hitoshi Nakagama, Jun Itami
Journal: Front Oncol (2023)
Keywords: acral malignant melanoma, boron neutron capture therapy (bnct), first treatment, linear accelerator-based bnct system, malignant melanoma, solid-state li target
MeSH terms: Case Reports

This study reports the first patient treatment for cutaneous malignant melanoma using a linear accelerator-based boron neutron capture therapy (BNCT) system. A single-center open-label phase I clinical trial had been conducted using the system since November 2019. A patient with a localized node-negative acral malignant melanoma and the largest diameter of the tumor ≤ 15 cm who refused primary surgery and chemotherapy was enrolled. After administering boronophenylalanine (BPA), a single treatment of BNCT with the maximum dose of 18 Gy-Eq delivered to the skin was performed. The safety and efficacy of the accelerator-based BNCT system for treating localized cutaneous malignant melanoma were evaluated. The first patient with cutaneous malignant melanoma in situ on the second finger of the left hand did not develop dose-limiting toxicity in the clinical trial. After BNCT, the treatment efficacy was gradually observed, and the patient achieved PR within 6 months and CR within 12 months. Moreover, during the follow-up period of 12 months after BNCT, the patient did not exhibit a recurrence without any treatment-related grade 2 or higher adverse events. Although grade 1 adverse events of dermatitis, dry skin, skin hyperpigmentation, edema, nausea, and aching pain were noted in the patient, those adverse events were relieved without any treatment. This case report shows that the accelerator-based BNCT may become a promising treatment modality for cutaneous malignant melanoma. We expect further clinical trials to reveal the efficacy and safety of the accelerator-based BNCT for cutaneous malignant melanoma.
Management of pemphigoid vegetans with mycophenolate mofetil: A case report
Authors: Audrey Mathieu, Myrna Chababi-Atallah, Hugues Allard-Chamard, Carolina Lucena Fernandes
Journal: SAGE Open Med Case Rep (2024)
Keywords: mycophenolate mofetil, pemphigoid vegetans
MeSH terms: Case Reports

Pemphigoid vegetans is a rare variant of bullous pemphigoid. Only 13 cases have been documented in the medical literature. The lesions clinically resemble pemphigus vegetans, but the histology is consistent with bullous pemphigoid. We present the case of a 63-year-old woman with painful vesicular and vegetative lesions progressing for 4 months. Histopathology showed a dermal-epidermal cleavage, epidermal acanthosis and an eosinophilic infiltrate. Direct immunofluorescence showed linear deposition of IgG and IgA at the junctional level. The diagnosis of pemphigoid vegetans was retained and successfully treated with oral corticosteroid, dapsone and mycophenolate mofetil.
Sweet syndrome associated with moderate leukocyte adhesion deficiency type I: a case report and review of the literature
Authors: Yoshine Saito, Anupama Kewalramani, Xiao P Peng, Aimee Magnarelli, Howard M Lederman
Journal: Front Immunol (2024)
Keywords: inborn error of immunity (iei), leukocyte adhesion deficiency type 1, neutrophilic dermatosis, sweet syndrome, whole exome sequencing
MeSH terms: Leukocyte-Adhesion Deficiency Syndrome / complications, Leukocyte-Adhesion Deficiency Syndrome / diagnosis, Leukocyte-Adhesion Deficiency Syndrome / genetics, Sweet Syndrome / diagnosis, Sweet Syndrome / drug therapy, Sweet Syndrome / genetics, Sweet Syndrome / pathology, Case Reports, Review, CD18 Antigens / genetics, Female, Humans, Infant, Mutation, Neutrophils / immunology, Skin / immunology, Skin / pathology, CD18 Antigens, Leukocyte adhesion deficiency type 1

Sweet syndrome is an acute febrile neutrophilic dermatosis characterized by the infiltration of neutrophils into the skin. It may occur idiopathically or be linked to malignancies, inflammatory or autoimmune diseases. Leukocyte adhesion deficiency type I (LAD-I) is an inborn error immunity wherein leukocytes lack adhesion molecules necessary for migration to infection sites due to mutations in the CD18 gene encoding β2 integrins. We present a case of a 16-month-old female initially diagnosed and treated for Sweet syndrome based on histopathological findings with recurrent flare episodes. Subsequent workup revealed LAD-I, making this case the first documented association between Sweet syndrome and LAD-I. Moreover, we reviewed the pertinent literatures detailing the concurrence of neutrophilic dermatosis and immunodeficiency disorders. This case underscores the significance of comprehensive evaluation for Sweet syndrome patients who are refractory to conventional treatments.
Case Report: Successful avoidance of etoposide for primary hemophagocytic lymphohistiocytosis-induced multiple organ dysfunction syndrome using emapalumab
Authors: Timothy J Hahn, Daniel J McKeone, James W Beal, Jessica E Ericson, E Scott Halstead
Journal: Front Pediatr (2024)
Keywords: hlh, mods, emapalumab, ferritin, sepsis
MeSH terms: Case Reports

We describe the case of an infant who presented with simple rhinovirus/enterovirus bronchiolitis whose condition worsened with rapid progression to multiple organ dysfunction syndrome (MODS). The patient was presumed to have either primary or secondary hemophagocytic lymphohistiocytosis (HLH), and treatment was initiated using dexamethasone, anakinra, and intravenous immunoglobulin to modulate the immune system. Due to the organ dysfunction, the use of etoposide was avoided and instead, emapalumab, an interferon gamma antagonist, was administered at a dose of 6 mg/kg. The patient's organ failure improved, and the levels of inflammatory markers decreased. The flow cytometry analysis revealed that cytotoxic cells lacked perforin expression, and subsequent genetic analysis confirmed homozygous pathogenic mutations in the perforin gene. This case highlights the potential avoidance of etoposide in cases of primary HLH, the possible benefit of an elevated initial dose of emapalumab, and the contribution offered by a multi-specialty team approach to complex diagnosis.
A pediatric case of atypical hemolytic uremic syndrome (aHUS): Could any infection play a triggering role?
Authors: Nikolaos Gkiourtzis, Paraskevi Panagopoulou, Kyriaki Papadopoulou-Legbelou, Sofia Chantavaridou, Despoina Tramma
Journal: Clin Nephrol Case Stud (2024)
Keywords: alternative complement pathway, atypical hemolytic uremic syndrome, children, influenza a
MeSH terms: Case Reports

A 12-year-old boy was transferred to our pediatric department from a rural hospital for fever, cough, and vomiting associated with thrombocytopenia, non-immune hemolytic anemia, and acute kidney injury, leading to the diagnosis of hemolytic uremic syndrome (HUS). A nasopharyngeal swab and a lower respiratory sample detected Influenza A by polymerase chain reaction (PCR). The patient was treated with oseltamivir and intravenous fluids in addition to fresh frozen plasma (FFP). Enteropathogenic Escherichia coli (EPEC) was detected in a stool sample by PCR. Serum antibodies for Mycoplasma pneumoniae (IgM and IgG) and Helicobacter pylori (IgA and IgG) were increased. Further work-up revealed elevated serum C5b-9 suggesting a simultaneous viral and bacterial infection-mediated complement overactivation leading to the diagnosis of atypical HUS (aHUS). An association between aHUS and influenza A is reported in the literature, but the correlation of EPEC, Mycoplasma pneumoniae, and Helicobacter pylori with aHUS is not well-established. Fresh frozen plasma was administered for a total of 3 days, followed by clinical and laboratory improvement. The patient has remained asymptomatic until the latest follow-up, 5 months after discharge. This case demonstrates the potential triggering role of different pathogens in aHUS pathogenesis to raise awareness in the pediatric community.