OpenMed/multicare-articles huggingface dataset:
Tibial Condyle Valgus Osteotomy for Ipsilateral Knee Osteoarthritis after Hip Arthrodesis
Authors: Daisuke Fukuhara, Hiroaki Inoue, Shuji Nakagawa, Yuji Arai, Kenji Takahashi
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

We report a case of tibial condylar valgus osteotomy (TCVO) for ipsilateral knee osteoarthritis (OA) after hip arthrodesis. A 58-year-old woman developed right purulent hip arthritis at one month of age and underwent right hip fusion at 16 years old. She visited our department at the age of 57 because her right knee joint pain worsened. The range of motion for her right knee was 80° and -5° of flexion and extension, respectively, and she experienced medial weight-bearing pain. A plain X-ray image showed that the right knee joint had end-stage knee OA with a bone defect inside the tibia, and the tibial plateau shape was the pagoda type. There was a marked instability in her right knee with a valgus of 9° and varus of 7° on stress photography. She underwent TCVO on her right knee and was allowed full load four weeks after surgery. Computed tomography imaging showed bone union nine months after surgery. Two years after the operation, there was no correction loss, and she could walk independently without pain. In general, total knee arthroplasty (TKA) is indicated for end-stage knee OA; however, there are problems, such as early loosening due to the increased mechanical load on the knee after hip OA. In this case, since a good course was obtained, TCVO is considered a treatment option for terminal knee OA after hip arthrodesis.
Surgical management of complicated inflammatory glaucoma
Authors: Glenda Espinosa-Barberi, Francisco José Galván González, David Peláez Viera
Journal: GMS Ophthalmol Cases (2020)
Keywords: express®, ologen®, xen®, glaucoma, inflammatory glaucoma, uveitis
MeSH terms: Case Reports

Case report: We report a case of a 26-year-old woman with a previous history of complicated ulcerative colitis, as well as multiple episodes of recurrent anterior uveitis in control with adalimumab and methotrexate, who develops ocular hypertension refractory to topical treatment. The implant of an EXPRESS® is proposed, but in the immediate post-operative period, the implant causes atalamia and does not achieve the correct control of intraocular pressure. A XEN® stent was implanted. Due to failure, it was decided to remove the stent and to release a subconjunctival fibrosis that had formed at the subconjunctival portion of the XEN®, in association with coating by an Ologen® collagen matrix, which led to an improvement of the results. Conclusions: The surgical management of inflammatory glaucoma is complex in young patients with a scar component. The new minimally invasive techniques are effective in cases refractory to topical treatment, whose characteristics prevent the use of conventional ones.
An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family
Authors: Ahmad J Alzahrani, Azzam Ahmad, Tariq Alhazmi, Lujin Ahmad
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

KISS1R (GPR54) mutations have been reported in several patients with congenital normosmic idiopathic hypogonadotropic hypogonadism (nIHH). We aim to describe in detail nIHH patients with KISS1R (GPR54) mutations belonging to one related extended family and to review the literature. A homozygous mutation (T305C) leading to a leucine substitution with proline (L102P) was found in three affected kindred (2 males and 1 female) from a consanguineous Saudi Arabian family. This residue is localized within the first exoloop of the receptor, affects a highly conserved amino acid, perturbs the conformation of the transmembrane segment, and impairs its function. In the affected female, a combined gonadotropin administration restored regular period and ovulation and she conceived with a healthy baby boy after 4 years of marriage. We showed that a loss-of-function mutation (p.Tyr305C) in the KISS1R gene can cause (L102P) KISS1 receptor dysfunction and familial nIHH, revealing the crucial role of this amino acid in KISS1R function. The observed restoration of periods and later on pregnancy by an exogenous gonadotropin administration further support, in humans, that the KISS1R mutation has no other harmful effects on the patients apart from the gonadotropin secretion impairment.
Toxic epidermal necrolysis-like acute cutaneous lupus erythematosus: two cases report
Authors: Asmae Abdelmouttalib, Mariame Meziane, Karima Senouci
Journal: Pan Afr Med J (2021)
Keywords: acute cutaneous lupus erythematosus, ten-like acle, case report, toxic epidermal necrolysis
MeSH terms: Adrenal Cortex Hormones / administration & dosage, Lupus Erythematosus, Cutaneous / diagnosis, Stevens-Johnson Syndrome / diagnosis, Case Reports, Acute Disease, Adult, Biopsy, Female, Humans, Lupus Erythematosus, Cutaneous / drug therapy, Lupus Erythematosus, Cutaneous / pathology, Necrosis / pathology, Skin / pathology, Stevens-Johnson Syndrome / pathology, Adrenal Cortex Hormones

Toxic epidermal necrolysis-like acute cutaneous lupus erythematosus (TEN-like ACLE) is a rare manifestation of systemic lupus erythematosus (SLE). Because of its rarity, little is known about this entity. In this report, we describe a case of two women previously diagnosed with SLE that presented TEN-like skin lesions. The common elements in both patients were the initial disposition of the lesions on the photoexposed areas, the positivity of Nikolsky´s sign, the discrete mucosal attrition compared to that observed during TEN, and the simultaneous appearance of dermatological lesions with an extra-cutaneous flare of lupus disease. The skin biopsy in both cases showed epidermal necrosis with an identification of lupus band on direct immunofluorescence. Systemic corticosteroids were used with a good evolution after 2 weeks. Skin damage is an indicator of disease activity, and careful search for extracutaneous involvement is obligatory to prevent further complications.
Quantitative assessment of muscle injury by (23)Na magnetic resonance imaging
Authors: Anke Dahlmann, Christoph Kopp, Peter Linz, Alexander Cavallaro, Hannes Seuss, Kai-Uwe Eckardt, Friedrich C Luft, Jens Titze, Michael Uder, Matthias Hammon
Journal: Springerplus (2016)
Keywords: assessment, healing, magnetic resonance imaging, quantification, sodium, sports injury

Background:
(23)Na magnetic resonance imaging ((23)Na-MRI) is able to measure Na(+) in vivo in humans and allows quantification of tissue sodium distribution. We now tested the utility of (23)Na-MRI technique in detecting and assessing sports-related acute muscular injury.
Case presentation:
We assessed tissue Na(+) of both lower legs with a 3T MRI scanner using a customized (23)Na knee coil. The affected left calf muscle in an injured volleyball player showed a hyperintense Na(+) signal. Follow-up measurements revealed persistently increased muscle Na(+) content despite complete clinical recovery.
Conclusions:
Our findings suggest that (23)Na-MRI could have utility in detecting subtle muscular injury and might indicate when complete healing has occurred. Furthermore, (23)Na-MRI suggests the presence of substantial injury-related muscle electrolyte shifts that warrant more detailed investigation.
MRI abnormalities in a severe cognitive impairment mimicking a forebrain lesion in a geriatric dog
Authors: Evelina Burbaitė, Aistė Gradeckienė, Dalia Juodžentė, Martinas Jankauskas
Journal: Braz J Vet Med (2022)
Keywords: canine cognitive dysfunction (ccd), magnetic resonance imaging (mri), aging, canine, neurology
MeSH terms: Case Reports

Canine Cognitive Dysfunction is a neurological condition, that causes dogs to experience a wide variety of clinical signs. On rare occasions the symptoms may be unusual and severe, therefore they reminiscent of another disease. In this case report a 16 year and 8-month-old intact female poodle presented with circling, head pressing, and generalized ataxia. Prior clinical and neurologic examinations indicated the neurolocalisation to be forebrain. Morphometric brain parameters in MRI indicated otherwise. Quantitative MRI parameters such as the ventricle-brain index, interthalamic adhesion thickness, area, and the ratio of the interthalamic adhesion thickness to brain height may aid in the diagnosis of CCD.
Biphenotypic Acute Leukemia versus Myeloid Antigen-Positive ALL: Clinical Relevance of WHO Criteria for Mixed Phenotype Acute Leukemia
Authors: William A Hammond, Pooja Advani, Rhett P Ketterling, Daniel Van Dyke, James M Foran, Liuyan Jiang
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Updated WHO criteria define mixed phenotype acute leukemia (MPAL) with more stringent diagnostic criteria than the formerly described entity biphenotypic acute leukemia (BAL). The changes in diagnostic criteria influence management by assigning weight to aberrantly expressed markers and minimizing expression of myeloid markers other than myeloperoxidase (MPO), potentially foregoing consolidative allogeneic transplant for an otherwise "favorable" lymphoid phenotypic leukemia. We present a case of MPO-negative, myeloid antigen-positive acute lymphoblastic leukemia who progressed with refractory phenotypic acute myeloid leukemia while receiving lymphoid-directed therapy and discuss concerns raised by the adoption of the new, more stringent diagnostic criteria for BAL.
Nasopharyngeal tuberculosis: report of four cases and review of the literature
Authors: Youssef Darouassi, Abdelfettah Aljalil, Amine Hanine, Amine Enneouali, Brahim Bouaity, Mohamed Mliha Touati, Haddou Ammar
Journal: Pan Afr Med J (2019)
Keywords: tuberculosis, headache, hearing loss, lymph node, nasal obstruction, nasopharyngeal disease, nasopharyngeal neoplasm, nasopharynx, treatment
MeSH terms: Nasopharyngeal Diseases / diagnosis, Nasopharyngeal Neoplasms / diagnosis, Tuberculosis / diagnosis, Case Reports, Review, Adolescent, Biopsy / methods, Diagnosis, Differential, Female, Humans, Male, Middle Aged, Nasopharyngeal Carcinoma / diagnosis, Nasopharyngeal Diseases / microbiology, Young Adult

Even if tuberculosis is a major cause of morbidity and mortality, nasopharyngeal location is unusual and extremely rare. We report four new cases observed with short time interval suggesting a trend towards increased frequency. The diagnosis was confirmed by histological analysis after a biopsy. The evolution was favorable after anti tuberculosis chemotherapy. In the light of those observations and a review of the literature, we will discuss different characteristics of this disease and we will highlight the need of a systematic biopsy in order to confirm diagnosis and exclude undifferentiated carcinoma especially in endemic regions for both diseases.
Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis
Authors: Kang Zhu, Yingkang Jin
Journal: Front Pediatr (2023)
Keywords: bronchiectasis, slc26a4, cystic fibrosis, gene mutations, pendred syndrome
MeSH terms: Case Reports

The SLC26A4 gene encodes the transmembrane protein pendrin, which is involved in the ion transport of chloride (Cl-), iodide (I-) or bicarbonate (HCO3-). Mutations in the SLC26A4 gene alter the structure and (or) function of pendrin, which are closely related to Pendred syndrome. What's more, researchers have demonstrated in vitro that mutations of SLC26A4 cause acidification of airway surface fluid (ASL), reduce airway defense, and increase the thickness of ASL. In the context of infection, it may lead to chronic inflammation, destruction of airway wall architecture and bronchiectasis. However, there is no case report of bronchiectasis caused by SLC26A4 gene mutations. Here, we describe the first case of Pendred syndrome and non-cystic fibrosis bronchiectasis in a child possibly caused by SLC26A4 mutations. We remind clinicians to pay attention to the possibility of bronchiectasis in patients with SLC26A4 gene mutations.
Intraoperative diagnosis of an unsuspected ruptured left ventricular aneurysm using transesophageal echocardiography: A case report
Authors: Tsuyoshi Tagawa, Shigeki Sakuraba
Journal: Clin Case Rep (2018)
Keywords: left ventricular aneurysm, myocardial infarction, transesophageal echocardiography
MeSH terms: Case Reports

Transesophageal echocardiography (TEE) enables a more accurate visualization of left ventricular posterior aneurysms than transthoracic echocardiography due to the close proximity of the esophagus to the posterior ventricular wall. Therefore, TEE is essential for the accurate diagnosis of posterior aneurysm, particularly in urgent settings where preoperative assessments may be insufficient.
Case report: Hemophagocytic lymphohistiocytosis in a child with primary immunodeficiency infected with Talaromyces marneffei
Authors: Huimin Yan, Yunjun Mo, Shilin Liu, Xiaojuan Luo, Lianlian Liu, Lintao Zhou, Xiuming Zhang, Yunsheng Chen, Ke Cao
Journal: Front Immunol (2022)
Keywords: card9, cd40lg, talaromyces marneffei, hemophagocytic lymphohistiocytosis, immunodeficiency disease
MeSH terms: Lymphohistiocytosis, Hemophagocytic / diagnosis, Lymphohistiocytosis, Hemophagocytic / genetics, Talaromyces / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, Humans, Immunocompromised Host, Mutation, Talaromyces marneffei

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening immune-mediated disease that affects patients with known genetic defects and is increasingly found among those with autoimmune diseases and persistent infections. Talaromyces marneffei (TM) is a human opportunistic fungus that commonly infects immunodeficient or immunosuppressed individuals. Few TM-associated secondary HLH cases resulting from autoimmune deficiency have been reported previously. The current case study describes a pediatric patient hospitalized with recurrent fever and lymphadenopathy. The child had abnormal blood cell classification, and microscopy revealed mature granulocytes that phagocytized fungal spores. It was speculated that the patient was infected with TM. The pathogen was detected earlier than the blood culture and confirmed by metagenomic next-generation sequencing. Whole-exome sequencing revealed that the patient had complex mutations associated with immunodeficiency. This included a mutation in exon 3 of the CD40LG gene, c.346G>A, which may be linked to hyper-IgM syndrome, a primary immunodeficiency disease with immunoglobulin conversion recombination defects that could explain the patient's increased susceptibility to serious opportunistic infections. In addition, a heterozygous frameshift variant, c.820dup (p.Asp274GlyfsTer61), was detected in exon 6 of CARD9, a key gene associated with fungal immune surveillance. After 4 days of fungal treatment, the abnormal blood cell clusters disappeared, but other infections occurred in succession for 6 months after rehabilitation. The patient was followed with the aim of providing subsequent immunotherapy. This study found that infection can trigger HLH in HIV-negative individuals, highlighting the importance of early definitive identification of the causative agent and investigation of potential immunodeficiency.
Total excision and V-Y plasty technique in the anal area condyloma acuminatum
Authors: Arif H Demirel, Ali U Ongoren, Ferruh Bingül, Nevzat Gulcelik
Journal: Indian J Plast Surg (2008)
Keywords: condyloma acuminatum, v-y flap
MeSH terms: Case Reports

Condyloma acuminatum is located in the perianal region, anal canal, vagina and the perineum. It is caused by human papillomavirus types 6 and 11. A 18 year-old man was admitted to the clinic because of a perianal mass. On examination of the patient's perianal area and inside the anal canal, a mass was found, which was nearly 8 x 8 cm in size. We could not obtain any information about venereal transmission. The mass was totally excised and the defect was reconstructed with a bilateral V-Y advancement flap. This technique has been used for sacrococcygeal, ischial and other defects but rarely used for condyloma acuminatum. We think that total excision and the use of the V-Y advancement flap technique is safe and has low morbidity in the treatment of condyloma acuminatum.
Case report: Malignant proliferating trichilemmal tumor of the thumb
Authors: Guojie Wang, Xuan Zhou, Junqi Luo, Qiyi Hu, Jie Zhang
Journal: Front Oncol (2022)
Keywords: 18-fdg, pet/ct, finger, malignant proliferating trichilemmal tumor, pathology
MeSH terms: Case Reports

Proliferating trichilemmal tumor is a very rare benign tumor that has the potential to transition into a malignant tumor. PTT most commonly affects the scalps of women above 60 years old and is frequently misdiagnosed due to its rarity. Herein, we present a case of a 68-year-old man with a malignant proliferating trichilemmal tumor on his right thumb. X-ray image showed a soft tissue mass on his thumb accompanied by bone destruction, while 18F-FDG PET revealed a hypermetabolic mass in the first index with axillary lymph node metastasis.
Effective Immunotherapy in Bone Marrow Metastatic Melanoma Presenting with Disseminated Intravascular Coagulopathy
Authors: Bolanle Gbadamosi, Daniel Ezekwudo, Bhadresh Nayak, Zhou Yu, Sandra Gjorgova-Gjeorgjievski, Ming Xie, Colvin Robert, Ishmael Jaiyesimi, Marianne Huben
Journal: Case Reports Immunol (2018)
MeSH terms: Case Reports

Malignant melanoma is responsible for the majority of skin cancer deaths and is increasing in prevalence. Bone marrow (BM) involvement by melanoma is rare in the absence of widespread visceral disease. Here, we report the case of a 30-year-old female who presented to the hospital with back pain, low-grade fever, and easy bruising. She was found to be bicytopenic and in disseminated intravascular coagulopathy (DIC). Surprisingly, BM biopsy showed extensive involvement by metastatic malignant melanoma in the absence of visceral or brain metastasis. The unique presentation of this case and the challenge of management of a potentially treatable cancer in a critically ill patient are discussed, alongside a review of published cases of metastatic melanoma in the BM and an exploration of currently available treatment options. The excellent response of our patient to combined immune checkpoint inhibitors has yet to be paralleled in the available literature.
Immunoglobulin G4-Related Spinal Intramedullary Inflammatory Pseudotumor: A Case Report and Literature Review
Authors: Zhou Qi, Jianli Liu, Guoqiang Li, Yinian Zhang
Journal: Front Neurol (2022)
Keywords: imaging features, immunoglobulin g4-related disease, inflammatory pseudotumor, pathological features, spinal intramedullary
MeSH terms: Case Reports

Immunoglobulin G4-related disease (IgG4-RD) is an autoimmune disease that affects several organs. An inflammatory pseudotumor is a histologically proven benign tumor-like lesion that most commonly involves the lung and orbit. It is rare in the central nervous system, but rarest in the spinal canal. In this report, we present a case of IgG4-related intramedullary spinal inflammatory pseudotumor, along with a literature review. A 29-year-old male was transferred to the Department of Neurosurgery of Lanzhou University Second Hospital with progressive quadriparesis after numbness and weakness in both lower limbs for 50 days. Enhanced magnetic resonance imaging (MRI) of the spine revealed an isointense signal on T1-weighted images and a hyperintense signal on T2-weighted images from an enhanced mass located at the thoracic vertebrae region, for which a schwannoma was highly suspected. Then, a posterior median approach was adopted. The lesion was resected. The patient received further glucocorticoid after the diagnosis of an IgG4-related inflammatory pseudotumor was established, and the patient's symptoms improved, such as quadriparesis and lower limb weakness. This case highlights the importance of considering IgG4-related inflammatory pseudotumor as a differential diagnosis in patients with lesions involving the spinal intramedullary compartment and lower limb weakness when other more threatening causes have been excluded. IgG4-related inflammatory pseudotumor is etiologically unclear and prognostically unpredictable, and imaging may not help establish the diagnosis of IgG4-related inflammatory pseudotumor due to its resemblance to malignant tumors, and total resection might not be warranted. Glucocorticoid and surgery are usually the first-line treatments used.
Post-ERCP Emphysematous Cholecystitis in a Young Woman: A Rare and Potentially Fatal Complication
Authors: Roisin Stack, Joseph McLoughlin, Amy Gillis, Barbara M Ryan
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

A 45-year-old woman with suspected Functional Biliary Sphincter Disorder (FBSD) developed Clostridium perfringens related emphysematous cholecystitis after ERCP. A low index of suspicion for emphysematous cholecystitis in this young, otherwise healthy woman led to a significant delay in making the correct diagnosis, and air in the gallbladder was wrongly attributed to a possible gallbladder perforation. ERCP is associated with significant risks, particularly in patients with FBSD, where diagnostic uncertainty renders the balance of risk versus benefit even more critical. Post-ERCP emphysematous cholecystitis secondary to Clostridium perfringens is a rare but potentially fatal complication.
Case report: A complicated course of Collet-Sicard syndrome after internal carotid artery dissection and lenticulo-striatal artery infarction
Authors: Dennis A Nowak, Rainer Linden, Peggy Arnold, Veronika Seitz, Katrin Stangl, Christina Wendl, Felix Schlachetzki
Journal: Front Neurol (2022)
Keywords: carotid artery dissection, dysphagia, dysphagia and rehabilitation, dysphonia, skull base pathology
MeSH terms: Case Reports

A 40-year-old Caucasian man presented with sudden onset of left-sided hemiparesis associated with dysphonia, dysphagia, and right-sided weakness on shoulder elevation and head rotation. The clinical examination revealed deviation of the tongue to the right, absence of right-sided gag reflex, right-sided palatal and vocal cord paresis, and weakness of the right trapezius and sternocleidomastoid muscles; all were in addition to left-sided brachiocephalic-accentuated hemiparesis. The diagnostic examination revealed dissection of the right carotid artery with occlusion of the middle cerebral artery and infarction in the lenticular-striatal artery territory. Mechanical thrombectomy with stent angioplasty of the right internal carotid artery was performed. The paresis of the left side of the body completely regressed within a week after symptom onset, but the dysphonia, weakness of the right trapezius and sternocleidomastoid muscles, and especially dysphagia persisted and regressed slowly but gradually. The patient required percutaneous gastric tube feeding for the next 12 weeks, possibly because of involvement of subcortical white matter tracts. The constellation of symptoms and clinical findings were consistent with Collet-Sicard syndrome, an extremely rare disorder caused by direct compression of the caudal cranial nerves at the base of the skull.