OpenMed/multicare-articles huggingface dataset:
Congenital Mid Ureteric Valve Stenosis Revisited: Case Report and Review of the Literature
Authors: Mohammed Elifranji, Abderrahman Elkadahi, Adrian Charles, Tariq O Abbas
Journal: Front Pediatr (2019)
Keywords: puj obstruction, congenital, hydronephrosis, retrograde pyelography, ureter, valve
MeSH terms: Case Reports

Congenital mid ureteric valve (MUV) stenosis is a very rare entity. Definitive preoperative diagnosis is clinically challenging, and most patients are misdiagnosed preoperatively. Intraoperative identification is therefore very important. Curative treatment consists of excision of the involved ureteric segment and anastomosis. This report describes the clinical findings in a patient with congenital mid ureteric valve stenosis, including radiological and histological workup and operative management. Routine intraoperative retrograde pyelography is important in the diagnosis of such rare pathologies.
Concomitant Central Giant Cell Granuloma and Aneurysmal Bone Cyst in a Young Child
Authors: Deepika Pai, Abhay Taranath Kamath, Adarsh Kudva, Monica Monica Charlotte Solomon, Saurabh Kumar, Prem Sasikumar
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Although Central Giant Cell Granuloma (CGCG) is a benign tumor of the jaw and aneurysmal bone cyst seen in children, its aggressive behavior causes extensive loss of hard tissue requiring wide excision and extensive rehabilitation. We report a rare case of concomitant CGCG and aneurysmal bone cyst in a two-year-old male child, involving the coronoid and condylar process. Young age, large tumor, its aggressive nature, and future growth of orofacial region pose a significant challenge in the management of such conditions. For a successful outcome, the systematic approach to the presurgical evaluation and appropriate treatment planning is essential for such conditions.
Pelvic Tuberculosis Diagnosed during Operative Laparoscopy for Suspected Ovarian Cancer
Authors: Daniel Martingano, Kayla Cagle-Colon, Jeanine Chiaffarano, Alan Marcus, Diana Contreras
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Background:
While the combination of a pelvic mass, very high serum level of CA-125, chest adenopathy, and ascites is concerning for advanced-stage ovarian cancer, the etiology of such a presentation can be due to disseminated pelvic tuberculosis.
Case:
A 67-year-old para 2 African-American woman presented with abdominal pain and shortness of breath. Subsequent CT and MR imaging demonstrated chest adenopathy, a pelvic mass, omental caking, and ascites. The patient underwent diagnostic laparoscopy with biopsy revealing noncaseating granulomas and subsequent tissue culture revealed Mycobacterium tuberculosis. The patient was diagnosed with disseminated pelvic tuberculosis and multidrug therapy was initiated.
Conclusion:
Pelvic tuberculosis can mimic advanced-stage ovarian cancer; thus obtaining a tissue sample may be beneficial to more appropriately direct treatment and planning for neoadjuvant therapies given the ineffectiveness of extensive surgical procedures in treating pelvic tuberculosis commonly employed in the treatment of advanced-stage ovarian cancer.
Per operative discovery of placenta praevia percreta: a case report
Authors: Lawrence Mbuagbaw, Frederick Lifangi-Ikomi Morfaw
Journal: Pan Afr Med J (2013)
Keywords: placenta praevia percreta, caesarian section, vaginal bleeding
MeSH terms: Cesarean Section, Incidental Findings, Placenta Accreta / diagnosis, Placenta Previa / diagnosis, Case Reports, Adult, Female, Humans, Infant, Newborn, Intraoperative Period, Placenta Accreta / surgery, Placenta Previa / surgery, Pregnancy

Placenta percreta is a rare pathological entity with challenging diagnostic and therapeutic requirements especially for resource limited settings. We present here the case of a 40 year old woman with a per operative diagnosis of placenta accreta during a caesarian section indicated for placenta praevia. We highlight the diagnostic and therapeutic difficulties associated with this condition especially in low resource settings. Physicians performing caesarian sections should be prepared for complex intra-operative findings in high risk patients.
Infantile epididymitis with calcification
Authors: Katsumi Muramori, Koji Nagata, Noritoshi Handa
Journal: J Indian Assoc Pediatr Surg (2008)
Keywords: infantile epididymitis calcification
MeSH terms: Case Reports

A 1-month-old infant presented with a case of calcifying chronic epididymitis. Differential diagnosis was made from a testicular torsion and neoplasm. Serial ultrasound examination revealed a calcified lesion adjacent to the normal testis, thereby avoiding an unnecessary orchiectomy. Infantile epididymitis has been thought to be rare; however, it is occasionally encountered in the literature and calcification with chronic epididymitis in an infant has not been previously reported. On the other hand, an infant with scrotal calcification should be suspected of neoplasm. However, the tumor markers alpha-fetoprotein (AFP) and Human Chorionic Gonadotropin beta (HCG beta) were within the physiological range. Therefore, a diagnosis must be carefully made to avoid an unnecessary orchiectomy.
Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations
Authors: Wenping Cao, Hongyan Ge, Xiaobo Cui, Lu Zhang, Jing Bai, Songbin Fu, Ping Liu
Journal: Mol Vis (2009)
MeSH terms: Corneal Dystrophies, Hereditary / genetics, Extracellular Matrix Proteins / genetics, Genetic Predisposition to Disease, Mutation / genetics, Penetrance, Transforming Growth Factor beta / genetics, Case Reports, Adolescent, Adult, Aged, Amino Acid Substitution, Asian People / genetics, Base Sequence, Child, Child, Preschool, China, Cornea / pathology, DNA Mutational Analysis, Exons / genetics, Family, Female, Homozygote, Humans, Male, Middle Aged, Molecular Sequence Data, Pedigree, Phenotype, Extracellular Matrix Proteins, Transforming Growth Factor beta, betaIG-H3 protein

Purpose:
To characterize the clinical phenotype, histopathological features, and molecular genetic basis of an Avellino corneal dystrophy (ACD) in a Chinese family.
Methods:
A complete ophthalmologic examination was performed in 21 individuals (6 affected and 15 unaffected) of the four-generation family. DNA was obtained from peripheral blood leukocytes of each participant. Genetic analysis included TGFBI polymerase chain reaction (PCR) amplification and automated nucleotidic sequenceing of all 17 exons of genomic DNA. Histological analysis of corneal tissue from the proband was performed after a penetrating keratoplasty. One hundred Chinese controls were scanned for the presence of the R124H mutation by amplifying TGFBI exon 4 and then by direct sequencing of PCR products.
Results:
The proband of the pedigree had phenotypic features consistent with diagnosis of ACD. He was homozygous for the same R124H mutation in TGFBI as previously reported in Japan and European countries. In addition, 4 affected and 7 unaffected individuals carried the same variation in the heterozygous state were identified. None of the 100 control subjects was positive for this mutation. Moreover, a variable expressivity and an apparent non-penetrance were observed in the individuals with heterozygous R124H mutation in our pedigree. After excluding the missed diagnosis or a late onset, it could be interpreted as a reduced penetrance.
Conclusions:
We reported a novel ACD family which exhibited a reduced penetrance of phenotype in northern China. This outcome supports that although the R124H mutation is one of the genetic causes of the disease, different genetic and environmental factors may influence the expressivity and the penetrance. Uncovering the mechanism may facilitate us to inhibit the occurrence of the corneal dystrophy caused by the R124H mutation in TGFBI, irrespective of the homozygous and heterozygous mutation.
Multiple Uric Acid Bladder Stones: Clinical Presentation and Endoscopic Management
Authors: Fabio Cesar Miranda Torricelli, Shih-Chieh Jeff Chueh, Shujane Shen, Manoj Monga
Journal: J Endourol Case Rep (2017)
Keywords: endoscopy, metabolic stone, obstruction, uric acid, urolithiasis
MeSH terms: Case Reports

Background: Bladder urinary calculi occur in 3%-8% of men with bladder outlet obstruction, and although most of them are composed of calcium, in a few cases uric acid bladder stones are diagnosed. Case Presentation: We present clinical images and therapeutic management of a 65-year-old diabetic man with significant prostate enlargement and >30 bladder stones, the largest being 17 mm. Despite the large stone burden, the patient was managed by cystolithotripsy. Remarkably, stone composition analysis revealed 100% uric acid stone. Intraoperative and postoperative course were uneventfully. Conclusion: Uric acid bladder stone pathogenesis seems to be multifactorial with local and systemic factors contributing in different manners and even large stone burdens may be cystoscopically managed.
Recurrent Cerebral Infarctions in Primary Sjögren Syndrome: A Case Report and Literature Review
Authors: Jia-Ai Li, Hong-Mei Meng, Zhi-Tao Cui, Xue Wang, Jing Miao
Journal: Front Neurol (2018)
Keywords: anti-ro(ssa) antibodies, central nervous system, cerebral infarctions, primary sjögren syndrome, vasculitis
MeSH terms: Case Reports

Recurrent cerebral infarctions are extremely rare in patients with primary Sjögren syndrome. We report a 66-year-old woman who was admitted to our hospital due to acute cerebral infarction with exacerbation of dysphagia and right-sided hemiplegia as the main symptoms. In the past 3 months, she had developed cerebral infarction twice, even though she had no risk factors for atherosclerosis. She was eventually diagnosed with primary Sjögren syndrome based on a long history of dryness of the eyes and mouth, positive anti-Ro(SSA) antibodies, and the findings of a labial salivary gland biopsy. The response to pulse methylprednisolone therapy after recurrent cerebral infarctions was poor. Thus we consider primary Sjögren syndrome patients with central nervous system involvement should be treated as soon as possible.
Biliary hamartoma: a report of two cases
Authors: Anass Haloui, Nassira Kariche, Asmae Aissaoui, Youness Najjioui, El Mehdi Tiabi, Noura Seghrouchni, Amal Bennani
Journal: Pan Afr Med J (2022)
Keywords: biliary hamartoma, von meyenburg complexes, adenocarcinoma, case report, ductal plate malformation
MeSH terms: Adenocarcinoma, Bile Duct Diseases / diagnosis, Bile Duct Diseases / pathology, Gastrointestinal Neoplasms, Hamartoma / pathology, Liver Diseases / diagnosis, Case Reports, Aged, 80 and over, Female, Humans, Male, Middle Aged

Biliary hamartoma, also known as biliary micro hamartoma or Von Meyenburg complex, is a rare benign liver lesion, thought to be a ductal plate malformation rather than a true neoplasm. It is often seen incidentally on imagery or surgery as multiple small subcapsular nodules, scattered throughout the liver, making it likely to be mistaken for metastatic nodules. The histological presentation can also be deceptive, leading to the misdiagnosis of an adenocarcinoma of hepato-biliary differentiation or a metastasis. We hereby present two cases of biliary hamartoma, found incidentally on imagery and surgery, the first one in a 94-year-old woman, and the second in a 48-year-old man, which was initially misdiagnosed as an adenocarcinoma, along with a discussion of key clinical and pathological findings to help avoid this diagnostic pitfall.
A patient with four-year survival after nonsmall cell lung carcinoma with a solitary metachronous small bowel metastasis
Authors: Klaas M Kant, Vincent Noordhoek Hegt, Joachim G J V Aerts
Journal: J Oncol (2010)
MeSH terms: Case Reports

Solitary small bowel metastasis secondary to lung cancer is very uncommon. In this report, we present a patient with NSCLC and a metachronous solitary metastasis of the jejunum. She is alive without evidence of disease and doing well four years after palliative surgery, radiotherapy, and chemotherapy. To the best of our knowledge, this is the first case report describing a prolonged survival in a patient with a symptomatic solitary small bowel metastasis treated with palliative surgery, chemo- and radiotherapy instead of complete surgical resection.
Case report: Successful treatment of human diabetic foot ulcer using low-intensity diagnostic ultrasound combined with microbubbles: Two cases
Authors: Xiaojuan Zhang, Ying Cheng, Ling Pei, Jie Tao, Rui Wang, Zhong Chen
Journal: Front Endocrinol (Lausanne) (2022)
Keywords: case report, diabetic foot ulcer, diagnostic ultrasound, microbubble, ultrasound treatment
MeSH terms: Diabetes Mellitus, Type 2 / complications, Diabetic Foot / complications, Diabetic Foot / diagnostic imaging, Diabetic Foot / therapy, Case Reports, Research Support, Non-U.S. Gov't, Aged, Humans, Male, Middle Aged, Ultrasonography / adverse effects, Wound Healing

Background:
Diabetic foot ulcer (DFU) is one of the serious complications of diabetes, which has high disability rate and mortality. Low-intensity ultrasound combined with microbubbles in blood circulation can enhance the blood perfusion effect of local soft tissue, which has the potential to promote the healing of diabetic ulcer. Here, we report how this method was used to help the healing of two patients with chronic refractory DFUs.
Case presentation:
In case 1, a 56-year-old man with 3-years history of type 2 diabetes had a 3.0×2.0 cm ulcer which infected with staphylococcus aureus on his right calf for more than half a month. In case 2, a 70-year-old man with 10-years history of type 2 diabetes presented with an 8-month right heel ulcer that developed to 7.5×4.6 cm. And he also had hyperlipidemia, hypertension, and renal impairment. Both patients were enrolled in our study to receive treatment of low-intensity diagnostic ultrasound (LIDUS) combined with microbubbles. They were discharged after a 20-minute daily standard treatment for 7 consecutive days. The ulcers in both cases completely healed in 60 days and 150 days, respectively, and haven't recurred for more than one year of follow-up.
Conclusion:
It is feasible, safe, and effective to use commercial LIDUS combined with commercial microbubbles in the treatment of diabetic lower extremity ulcers. This study may provide an innovative and non-invasive method for the treatment of DFUs.
Cephalic tetanus: a case report
Authors: M A Alhaji, U Abdulhafiz, C I Atuanya, F L Bukar
Journal: Case Rep Infect Dis (2011)
MeSH terms: Case Reports

A case report of cephalic tetanus in a 2-year-old girl who was not immunized against tetanus following suppurative otitis media (SOM) is presented. This case is reported because of the rarity of cephalic tetanus associated with high mortality, to highlight the risk of cephalic tetanus as sequelae of SOM and the need for proper aural care and prompt treatment of SOM. Primary immunization of all eligible children as well as booster vaccination at appropriate time as an effective management strategy for tetanus is emphasized.
The Role of Parental Capacity for Medical Decision-Making in Medical Ethics and the Care of Psychiatrically Ill Youth: Case Report
Authors: Ewa D Bieber, Gail A Edelsohn, Maria E McGee, Julia Shekunov, Magdalena Romanowicz, Jennifer L Vande Voort, Alastair J S McKean
Journal: Front Psychiatry (2020)
Keywords: child and adolescent psychiatry, decisional capacity, ethical dilemma, harm principle, medical neglect

Introduction: Parents/legal guardians are medical decision-makers for their minor children. Lack of parental capacity to appreciate the implications of the diagnosis and consequences of refusing recommended treatment may impede pediatric patients from receiving adequate medical care. Child and adolescent psychiatrists (CAPs) need to appreciate the ethical considerations relevant to overriding parental medical decision-making when faced with concerns for medical neglect. Methods: Two de-identified cases illustrate the challenges inherent in clinical and ethical decision-making reflected in concerns for parental capacity for medical decision-making. Key ethical principles are reviewed. Case 1: Treatment of an adolescent with an eating disorder ethically complex due to the legal guardian's inability to adhere with treatment recommendations leading to the patient's recurrent abrupt weight loss. Case 2: Questions of parental decisional capacity amid treatment of an adolescent with schizoaffective disorder raised due to parental mistrust of diagnosis, disagreement with treatment recommendations, and lack of appreciation of the medical severity of the situation with repeated discharges against medical advice and medication nonadherence. Discussion: Decisions to question parental capacity for medical decision-making when risk of imminent harm is low but concern for medical neglect exists are controversial. Systematic review of cases concerning for medical neglect benefits from the assessment of parental decisional capacity, review of ethical standards and principles. Conclusion: Recognition of the importance of parental decision-making capacity as relates to parental autonomy and medical neglect and understanding key ethical principles will enhance the CAP's capacity in medical decision-making when stakes are high and absolute recommendations are lacking.
Difficult tracheal intubation and post-extubation airway stenosis in an 11-month-old patient with unrecognized subglottic stenosis: a case report
Authors: Natsuko Ohsima, Fumimasa Amaya, Shunsuke Yamakita, Yoshinobu Nakayama, Hideya Kato, Yumi Muranishi, Toshiaki Numajiri, Teiji Sawa
Journal: JA Clin Rep (2017)

Background:
Subglottic stenosis can lead to life-threatening difficult tracheal intubation during general anesthesia. We report a case of difficult tracheal intubation in an 11-month-old female who had unrecognized subglottic stenosis.
Case presentation:
The patient was scheduled for elective correction of a right accessory auricle. She was suspected of having first and second branchial arch syndrome. Preoperative physical examination was normal. Anesthesia was induced uneventfully using sevoflurane. It was not possible to pass size 4.0, 3.5, or 3.0 cuffed endotracheal tubes due to an advanced subglottic lesion. Subsequent successful intubation was achieved using a 3.0 uncuffed tube. Stridor was audible after extubation, and the patient required several days' treatment with dexamethasone to address respiratory distress.
Conclusions:
We encountered unrecognized subglottic stenosis that led to difficult tracheal intubation and post-extubation airway stenosis.
Case report: Targeting the PD-1 receptor and genetic mutations validated in primary histiocytic sarcoma with hemophagocytic lymphohistiocytosis
Authors: Yan Zhao, Yating Deng, Yi Jiang, Wenli Zheng, Yanlin Tan, Zhiwu Yang, Zhihua Wang, Feng Xu, Zhao Cheng, Lingli Yuan, Hongling Peng
Journal: Front Immunol (2023)
Keywords: hemophagocytic lymphohistiocytosis, histiocytic sarcoma, programmed death-ligand 1 (pd-l1), sequencing, targeted therapy
MeSH terms: Histiocytic Sarcoma / diagnosis, Histiocytic Sarcoma / drug therapy, Histiocytic Sarcoma / genetics, Lymphohistiocytosis, Hemophagocytic / diagnosis, Lymphohistiocytosis, Hemophagocytic / drug therapy, Lymphohistiocytosis, Hemophagocytic / genetics, Case Reports, Research Support, Non-U.S. Gov't, Humans, Male, Middle Aged, Mutation, Programmed Cell Death 1 Receptor, N-(2-amino-5-fluorobenzyl)-4-(N-(pyridine-3-acrylyl)aminomethyl)benzamide, Programmed Cell Death 1 Receptor

Histiocytic sarcoma (HS) is a rare hematological malignancy with limited treatment options, and it is also prone to complications such as hemophagocytic lymphohistiocytosis (HLH) in the later stages of the disease, leading to difficulties in treatment and poor prognosis. It highlights the importance of developing novel therapeutic agents. Herein, we present a case of a 45-year-old male patient who was diagnosed with PD-L1-positive HS with HLH. The patient was admitted to our hospital with recurrent high fever, multiple skin rashes with pruritus throughout the body and enlarged lymph nodes. Subsequently, pathological biopsy of the lymph nodes revealed high expression of CD163, CD68, S100, Lys and CD34 in the tumor cells and no expression of CD1a and CD207, confirming this rare clinical diagnosis. Concerning the low remission rate by conventional treatment in this disease, the patient was administered with sintilimab (an anti-programmed cell death 1 [anti-PD-1] monoclonal antibody) at 200 mg/d combined with a first-line chemotherapy regimen for one cycle. Further exploration of pathological biopsy by using next-generation gene sequencing led to the use of targeted therapy of chidamide. After one cycle of combination therapy (chidamide+sintilimab, abbreviated as CS), the patient achieved a favorable response. The patient showed remarkable improvement in the general symptoms and laboratory examination results (e.g., elevated indicators of inflammation); even the clinical benefits was not persistent, he survived one more month after his cessation of treatment by himself due to economic difficulty. Our case suggests that PD-1 inhibitor coupled with targeted therapy might constitute a potential therapeutic option for primary HS with HLH.
Intraosseous Ganglia: a series of 17 treated cases
Authors: Akio Sakamoto, Yoshinao Oda, Yukihide Iwamoto
Journal: Biomed Res Int (2013)
MeSH terms: Bone Cysts / diagnostic imaging, Bone Cysts / pathology, Osteoarthritis / pathology, Osteosclerosis / diagnostic imaging, Case Reports, Adult, Aged, Bone Cysts / diagnosis, Female, Femur / diagnostic imaging, Femur / pathology, Humans, Male, Middle Aged, Osteoarthritis / diagnostic imaging, Osteosclerosis / diagnosis, Osteosclerosis / pathology, Scapula / diagnostic imaging, Scapula / pathology, Tibia / diagnostic imaging, Tibia / pathology, Tomography, X-Ray Computed

Background:
Intraosseous ganglion is a cystic lesion that contains gelatinous material, most often occurs in middle-aged patients, and is regarded as similar to soft-tissue ganglion. The etiology is unknown, but association with degenerative joint disease has been considered.
Materials and methods:
At a single institute, 17 patients (8 men, 9 women) with a mean age of 48.9 years (22-72 years) were surgically treated for an intraosseous ganglion. The lesions were located in 9 long bones (5 tibiae, 2 humeri, 1 ulna, and 1 femur); 4 flat bones (2 scapulae, 2 ilia); and 4 small bones (2 scaphoid, 1 metacarpal bone, and 1 talus). The diagnosis was confirmed based both on the gross intraoperative finding of intralesional gelatinous material and on histopathology.
Results:
All lesions occurred at the epiphysis or near the joint. The plain radiographs showed a lesion with marginal osteosclerosis. The average lesion size was 22.4 mm (range 6-40 mm). Among the 17 patients, 2 (12%) had osteoarthritis, 3 (18%) had pathological fracture, and 4 (24%) had extraskeletal extension.
Discussion and conclusion:
The periosteum and cortex of bone represent physical barriers. Therefore, it seems much more likely that primary bone lesions will spread to the soft tissues. Intraosseous ganglion does not appear to be associated with either soft-tissue ganglion or with osteoarthritis. This clinical information and the appearance on plain radiographs, particularly the marginal osteosclerosis, are of differential diagnostic importance.