OpenMed/multicare-articles huggingface dataset:
Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report
Authors: Chen-Zhao Lin, Bi-Ru Qi, Jian-Su Hu, Yu-Dian Huang, Xiu-Qiong Huang
Journal: Mol Cytogenet (2019)
Keywords: cardiac rhabdomyoma, chromosomal microarray analysis, chromosome 15q13 microduplication, copy number variation
MeSH terms: Case Reports

Background:
Copy number variation (CNV) is a complex genomic rearrangement that has been linked to a large number of human diseases. Chromosome 15q13 microduplication is a rare form of CNV, which has been proved to be associated with multiple human disorders; however, the association between chromosome 15q13 microduplication and cardiac disorders has not been fully understood.
Case presentation:
A fetus with fetal cardiac developmental defects was detected by Color Doppler ultrasound imaging; however, further chromosomal G-banding revealed no abnormal karyotype. Then, chromosomal microarray analysis (CMA) was performed and revealed a 1.8 Mb-duplication of the chromosome 15q13.2q13.3 region containing 7 genes (TRPM1, KLF13, OTUD7A, CHRNA7, FAN1, MIR211 and RAHGAP11A). Cardiac ultrasound follow-up displayed significant enlargement of the space-occupying lesion in the fetal heart with extension of the gestational age, and the space-occupying lesion was finally pathologically diagnosed as cardiac rhabdomyoma. Next-generation sequencing revealed no mutations in the TSC1 or TSC2 gene in the fetus, the mother or the father.
Conclusions:
This is the first report to demonstrate the potential association between chromosome 15q13 microduplication and fetal cardiac rhabdomyoma. It is recommended that CMA be employed in fetuses with abnormal cardiac development diagnosed by routine cardiac color Doppler ultrasound imaging for early detection of congenital genetic abnormality, which may provide valuable information for prenatal diagnostic consultation and the decision on pregnancy termination.
Primary Choledocholithiasis 15 Years Postcholecystectomy
Authors: Michael Simon, Irfan Nazir Hassan, Dhanasekaran Ramasamy, David Wilson
Journal: Case Rep Med (2020)
MeSH terms: Case Reports

Gallstone disease is extremely prevalent in the western society with laparoscopic cholecystectomy (LC) being the standard treatment for patients with symptomatic gallstones. The prevalence of common bile duct (CBD) stones with concomitant gallstones increases with age from 8-15% in patients <60 years of age and up to 60% in the elderly. There have been only a few case reports of postcholecystectomy bile duct stones occurring more than 10 years following surgery in the literature. Most of these reports describe the presence of stones within the gallbladder/cystic duct remnant or secondary to migrating surgical clips.
The management of stress urinary incontinence: A case report
Authors: Preshani Reddy
Journal: S Afr J Physiother (2015)

Introduction:
Conservative management is the first option for patients with stress urinary incontinence (SUI). However, successful management of women diagnosed with SUI is dependent on a proper assessment and a tailored treatment plan. This case report aims to show the effectiveness of physiotherapy management in a 42-year-old patient diagnosed with SUI.
Patient presentation:
The patient's main complaints were involuntary loss of urine on coughing, sneezing and lifting of heavy objects, which started following the birth of her third child.
Management and outcome:
The patient was taught the 'Knack' manoeuvre and provided with a tailored pelvic floor exercise programme. Improvement was noted at the third visit and the patient no longer had involuntary episodes.
Conclusion:
This case report shows the successful outcome of conservative management in a patient with stress urinary incontinence.
Epididymo-orchitis as a presenting feature of relapsing polychondritis: a case report
Authors: Kuljeet Bhamra, Rachel Weerasinghe, Alan Steuer
Journal: Case Rep Rheumatol (2011)
MeSH terms: Case Reports

Relapsing polychondritis (RP) is a rare multisystem disease. It is characterized by recurrent inflammation of cartilaginous structures including the ears, nose, tracheo-bronchial tree and peripheral joints. Proteoglycan-rich structures such as the heart, eyes and blood vessels can also be affected. Systemic symptoms including fever, weight loss and lethargy are common. RP is difficult to diagnose as it presents in a wide variety of ways and there is no diagnostic test. Corticosteroids are the mainstay of treatment but other immunosuppressive drugs can be used in combination with steroids. We present an unusual presentation of RP.
Primary congenital lymphedema complicated by hydrops fetalis: a case report and review of the literature
Authors: Paul Singh, Matthew Connell
Journal: Case Rep Obstet Gynecol (2013)

Introduction. Primary congenital lymphedema is a rare disorder associated with insufficient development of lymphatic vessels. Usually most patients present with lower extremity edema seen sonographically. Rarely primary congenital lymphedema may be associated with severe lymphatic dysfunction resulting in hydrops fetalis. Case. A 27-year-old primigravida with a family history of leg swelling throughout multiple generations was diagnosed early in the third trimester with hydrops fetalis. Delivery was undertaken at 32 weeks for nonreassuring fetal status and the infant expired at approximately 45 minutes of life. Primary congenital lymphedema was confirmed via molecular testing of the vascular endothelial growth factor receptor-3 gene. Discussion. The diagnosis of PCL is suspected prenatally when ultrasound findings coincide with a positive family history of chronic lower limb lymphedema. Isolated PCL is rarely associated with significant complications. Rarely, however, widespread lymphatic dysplasia may occur, possibly resulting in nonimmune hydrops fetalis.
Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III
Authors: Massimiliano Gobbo, Sara Lazzarini, Laura Vacchi, Paolo Gaffurini, Luciano Bissolotti, Alessandro Padovani, Massimiliano Filosto
Journal: Case Rep Neurol Med (2019)
MeSH terms: Case Reports

Background:
Electrotherapy is widely used in physical therapy to increase muscle mass, improve motor function, and assist physical activity in several neurologic conditions. However, concerning Spinal Muscular Atrophy (SMA), limited evidence exists on the role of electrotherapy as an adjunct for improving muscle strength and function.
Case report:
An adolescent (13 y.o.) with SMA type III underwent an 18-week strengthening program divided into two stages. During Phase I (weeks: 1-8), a home-based program for quadriceps strengthening through neuromuscular electrical stimulation (NMES) was provided. In Phase II (weeks: 9-18), at-home NMES was combined with functional electrical stimulation (FES) assisting volitional cycling for a broader, systemic conditioning. The treatment improved patient's structural and functional motor outcomes (quadriceps circumference and strength, Tinetti scale, and Hammersmith scale) as well as independence in stair climbing.
Clinical rehabilitation impact:
The purpose of this report is to raise awareness of the potential role of electrotherapy to help improving motor performance in SMA patients and, secondly, to foster further research aimed at assessing the actual contribution this intervention may have as an add-on therapy to existing care.
Effective Treatment of Upper Urinary Tract Malignancies Using Laparoscopic Surgery in Three Nonagenarians in Poor General Condition: Are They Too Old for Surgery?
Authors: Takehiro Sejima, Shuichi Morizane, Katsuya Hikita, Masashi Honda, Atsushi Takenaka
Journal: J Endourol Case Rep (2018)
Keywords: laparoscopic surgery, nonagenarian, renal malignancy
MeSH terms: Case Reports

Backgrounds: Surgical procedures in the elderly are associated with higher perioperative morbidity and mortality rates than in younger patients. This is especially significant because elderly individuals are more likely to be operated on now than in the past because they represent the fastest growing subset of the population in advanced countries. Our cases are three nonagenarian patients with renal malignancy in poor general condition and were effectively treated by laparoscopic surgery. Case Presentation: Case 1 was a 91-year-old male patient with a right renal cell carcinoma of pT1b N0 M0. Case 2 was a 92-year-old male patient with a right renal pelvic tumor of pT3 N0 M0. Case 3 was a 90-year-old female patient with a left renal pelvic tumor of pT2 N0 M0. Case 1 had an Eastern Cooperative Oncology Group performance status of 1. The status of cases 2 and 3 was both rated as 2. All three cases had grade 3A chronic kidney disease. Cases 2 and 3 also had deep vein thrombosis in the lower extremities and dementia. In addition, case 2 had coronary occlusive disease. All cases were treated by laparoscopic surgery and effectively discharged from hospital without major physical complications. Conclusion: This report is the first English-language article that describes treating nonagenarian patients by laparoscopic urologic surgery. An increasing number of nonagenarian patients present with urologic malignancies, and surgeons are frequently faced with the question, "Are they too old for surgery?" Our report suggests that laparoscopic surgery for renal malignancy in nonagenarian patients is feasible.
Schema therapy for Dissociative Identity Disorder: a case report
Authors: Nathan Bachrach, Marleen M Rijkeboer, Arnoud Arntz, Rafaële J C Huntjens
Journal: Front Psychiatry (2023)
Keywords: dissociative identity disorder, ptsd, case report, personality disorder, schema therapy
MeSH terms: Case Reports

Treatment for Dissociative Identity Disorder (DID) often follows a practice-based psychodynamic psychotherapy approach that is conducted in three phases: symptom stabilization, trauma processing, and identity integration and rehabilitation. The percentage of patients that reach the third phase is relatively low, treatment duration is long, and the effects of this treatment on the core DID symptoms have been found to be small or absent, leaving room for improvement in the treatment of DID. Schema Therapy (ST) is an integrative psychotherapy that has been proposed as a treatment for DID. This approach is currently being investigated in several studies and has the potential to become an evidence-based treatment for DID. This case report presents an overview of the protocol adaptations for DID ST treatment. The presented case concerns a 43-year-old female patient with DID, depressive disorder (recurrent type), PTSD, cannabis use disorder, and BPD. Functioning was very low. She received 220 sessions of ST, which included direct trauma processing through Imagery Rescripting (ImRs). The patient improved in several domains: she experienced a reduction of PTSD symptoms, as well as dissociative symptoms, there were structural changes in the beliefs about the self, and loss of suicidal behaviors. After treatment she was able to stop her punitive mode, to express her feelings and needs to others, and to participate adequately in social interaction. This case report indicates that ST might be a viable treatment for DID, adding to a broader scope of treatment options for this patient group.
Transgastric biopsy of a submucosal gastric tumour
Authors: Joachim Kettenbach, Martin Mittendorfer, Irina Wimmer, Marcus Mader, Eva Taubenschuss, Eva Unfried, Gertrud Heinz
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Endoscopic biopsy is thought to be the best method to obtain biopsy samples of the gastrointestinal tract. In our case, however, an endoscopic forceps biopsy failed to confirm malignancy of an intramural gastric tumour. Since the tumour, about 4 cm in diameter, was well delineated on the CT scan, the patient was referred for a percutaneous CT-guided needle biopsy, which confirmed a gastrointestinal stromal tumour.
Clinical Relapses of Atypical HUS on Eculizumab: Clinical Gap for Monitoring and Individualised Therapy
Authors: Chia Wei Teoh, Kathleen Mary Gorman, Bryan Lynch, Timothy H J Goodship, Niamh Marie Dolan, Mary Waldron, Michael Riordan, Atif Awan
Journal: Case Rep Nephrol (2018)
MeSH terms: Case Reports

Atypical hemolytic uremic syndrome (aHUS) is caused by dysregulation of the complement system. A humanised anti-C5 monoclonal antibody (eculizumab) is available for the treatment of aHUS. We present the first description of atypical HUS in a child with a coexistent diagnosis of a POL-III leukodystrophy. On standard eculizumab dosing regime, there was evidence of ongoing C5 cleavage and clinical relapses when immunologically challenged. Eculizumab is an effective therapy for aHUS, but the recommended doses may not be adequate for all patients, highlighting the need for ongoing efforts to develop a strategy for monitoring of treatment efficacy and potential individualisation of therapy.
Unilateral Urogenital Disontogeny in a Dog
Authors: Adolfo Maria Tambella, Stefano Martin, Matteo Cerquetella, Daniele Spaziante, Angela Palumbo Piccionello, Andrea Marchegiani, Umberto Faccenda, Giacomo Rossi
Journal: Case Rep Vet Med (2021)
MeSH terms: Case Reports

The purpose of this report was to describe an uncommon congenital anomaly in a dog. An 8-year-old, mixed-breed, male dog, was referred because of progressive difficulties on defecation. A complete diagnostic work-up (hematological analysis, radiology, ultrasound, and computed tomography), followed by surgery and histopathology, allowed us to diagnose the condition as unilateral urogenital disontogeny. The disorder was characterized by unilateral anomalies of the urinary tract (ectopic and dilated hydroureter, hydronephrosis, and renal dysplasia) associated with ipsilateral anomalies of the genital system (partial permanence of the duct of Wolff evolved into an epididymal-like structure and testicular agenesis). En bloc surgical excision of the complex of urogenital anomalies was performed with no complications during or after surgery. Surgery was considered to be effective in this dog since he no longer showed clinical signs of illness.
Pediatric stroke and transcranial direct current stimulation: methods for rational individualized dose optimization
Authors: Bernadette T Gillick, Adam Kirton, Jason B Carmel, Preet Minhas, Marom Bikson
Journal: Front Hum Neurosci (2014)
Keywords: hemiparesis, modeling, pediatrics, stroke, transcranial direct current stimulation

Background:
Transcranial direct current stimulation (tDCS) has been investigated mainly in adults and doses may not be appropriate in pediatric applications. In perinatal stroke where potential applications are promising, rational adaptation of dosage for children remains under investigation.
Objective:
Construct child-specific tDCS dosing parameters through case study within a perinatal stroke tDCS safety and feasibility trial.
Methods:
10-year-old subject with a diagnosis of presumed perinatal ischemic stroke and hemiparesis was identified. T1 magnetic resonance imaging (MRI) scans used to derive computerized model for current flow and electrode positions. Workflow using modeling results and consideration of dosage in previous clinical trials was incorporated. Prior ad hoc adult montages vs. de novo optimized montages provided distinct risk benefit analysis. Approximating adult dose required consideration of changes in both peak brain current flow and distribution which further tradeoff between maximizing efficacy and adding safety factors. Electrode size, position, current intensity, compliance voltage, and duration were controlled independently in this process.
Results:
Brain electric fields modeled and compared to values previously predicted models (Datta et al., 2011; Minhas et al., 2012). Approximating conservative brain current flow patterns and intensities used in previous adult trials for comparable indications, the optimal current intensity established was 0.7 mA for 10 min with a tDCS C3/C4 montage. Specifically 0.7 mA produced comparable peak brain current intensity of an average adult receiving 1.0 mA. Electrode size of 5 × 7 cm(2) with 1.0 mA and low-voltage tDCS was employed to maximize tolerability. Safety and feasibility confirmed with subject tolerating the session well and no serious adverse events.
Conclusion:
Rational approaches to dose customization, with steps informed by computational modeling, may improve guidance for pediatric stroke tDCS trials.
Cortical blindness as severe neuro-ophthalmological manifestation of tuberous sclerosis complex
Authors: Alvaro I Ortiz Z, Pedro Luis Cárdenas, Luis C Escaf, Marcela Peralta
Journal: GMS Ophthalmol Cases (2017)
Keywords: blindness, electrophysiology, hamartoma, retina, tuberous sclerosis
MeSH terms: Case Reports

Patients with retinal lesions related to tuberous sclerous complex (TSC) commonly have no impairment of visual acuity. We present a case of a 1-year-old Hispanic girl with TSC in which bilateral cortical blindness is documented.
A Technique for Removing Implant-Retained Denture: Direct Relining Complication
Authors: İbrahim Duran, Betül Yilmaz, Çağrı Ural
Journal: Case Rep Dent (2015)

The aim of this case report is to present a technique for removing the denture which locked to ball-attachment because of excessive hard relining resin material flows around the ball-attachment. An alternative method was used in the present case. A cylindrical resin was removed with a diamond bur at the level of matrix and by this way the matrix was removed safely. The advantage of the presented method is that it may be extended to other clinical situations when facing a similar complication for implant supported dentures and also that the technique is simple and does not require special equipment.
Surgical Treatment for Spinal Tuberculosis without Elevation of Inflammatory Biomarkers at the Initial Visit Mimicking Spinal Metastasis
Authors: Takuya Sakamoto, Hiroshi Takahashi, Junya Saito, Yasuo Matsuzawa, Yasuchika Aoki, Arata Nakajima, Masato Sonobe, Yorikazu Akatsu, Manabu Yamada, Yuki Akiyama, Tatsunori Iwai, Keita Yanagisawa, Yasuhiro Shiga, Kazuhide Inage, Sumihisa Orita, Yawara Eguchi, Satoshi Maki, Takeo Furuya, Tsutomu Akazawa, Masao Koda, Masashi Yamazaki, Seiji Ohtori, Koichi Nakagawa
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Here, we report a case of spinal tuberculosis without elevation of C-reactive protein (CRP) at the initial visit mimicking spinal metastasis. A 70-year-old woman developed progressive paraplegia without a history of injury and came to our hospital for evaluation. Severe compression to the spinal cord with osteolytic destruction of the spinal vertebrae at T6-7 was observed without elevation of CRP. A T4-9 posterior decompression and fusion were performed. Although the pathology revealed no malignant tumor cells, a positron emission tomography-computed tomography (PET-CT) showed upregulation of the thyroid gland and aspiration cytology revealed a thyroid carcinoma. Thus, we diagnosed her with spinal metastases from thyroid carcinoma. Conservative treatment was chosen with the hope of a significant neurologic recovery; however, 9 months after the primary surgery, she returned to our hospital with reprogressive paraplegia. In addition to progression of osteolytic changes to the T5-7 vertebrae, a coin lesion on the right side of the lung and elevation of CRP were observed. Finally, we diagnosed her with spinal tuberculosis based on the results of a CT-guided needle culture. Two-stage surgeries (posterior and anterior) were performed in addition to administering antituberculosis medications. At the 1-year postoperative follow-up evaluation, both neurologic function and laboratory data were improved with T5-9 complete fusion. It is difficult to determine based on imaging findings alone whether osteolytic vertebrae represent spinal metastases or tuberculosis. Even though inflammatory biomarkers, such as CRP, were not elevated, we should consider the possibility of not only spinal metastases but also tuberculosis when planning surgery involving osteolytic vertebrae. In addition, the combination of neurological, imaging, and pathological findings is important for the diagnosis of spinal tuberculosis.
Case Report: Pathological Complete Response in a Brain-Metastatic Lung Squamous Cell Carcinoma Patient With Long-Term Benefit From Chemo-Immunotherapy
Authors: Chen Hu, Qiang Ma, Nengsheng Li, Nuo Luo, Shuai Hao, Minrui Jiang, Fei Pang, Yan Yang, Li Li, Yong He
Journal: Front Oncol (2021)
Keywords: nsclc, immune checkpoint inhibitors (ici), immunotherapy, neoadjuvant therapy, pathological complete response (pcr)
MeSH terms: Case Reports

Immune checkpoint inhibitors have brought long-term survival benefit in advanced non-small cell lung cancer patients without driver gene mutations. Even after withdrawal of immunotherapy for a maximum of two years, some patients still benefit from this therapy and the reason is not fully clear. Results from several neoadjuvant trials indicated that in resectable lung cancer patients, neoadjuvant immunotherapy or chemo-immunotherapy led to major or complete pathological responses in a high proportion of tumors. Here we report a case of a brain-metastatic lung squamous cell carcinoma patient who received supratentorial tumor resection and thoracic surgery after chemo-immunotherapy, and achieved a pathological complete response (pCR) in both lesions. This case indicated that pCR can also happen in advanced-stage lung cancer patients receiving chemo-immunotherapy, which may be the reason for long-term benefit of those patients.
Multidrug-Resistant Escherichia coli Resulting in Postpartum Necrotizing Endomyometritis
Authors: Joan Tymon-Rosario, Meleen Chuang
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Background:
Postpartum endometritis is a fairly common postoperative complication occurring in up to 11 percent of all cesarean deliveries. Multidrug-resistant pathogenic organism is increasingly a factor in postoperative source of infection. Postpartum endomyometritis from a multidrug-resistant Escherichia coli infection resulting in uterine is one such rare clinical circumstance where there is minimal information in the literature to guide its treatment and management.
Case:
A 29-year-old G1P0 who underwent a primary cesarean delivery for a failed induction of labor developed endomyometritis on post-op day one and was treated with multiple broad-spectrum antibiotic regimens. The source of infection was found to be multidrug-resistant Escherichia coli with uterine involvement and pelvic abscesses, requiring hysterectomy and drainage of pelvic abscesses. Severe uterine necrosis from this multidrug-resistant Escherichia coli infection was noted intraoperatively. After three weeks of antibiotic therapy, she had resolution of her infection.
Conclusion:
Multidrug-resistant Escherichia coli is a highly pathogenic organism that can cause endomyometritis, persistent bacteremia, and uterine necrosis, which necessitates definitive surgical management with hysterectomy to achieve resolution of the infection.
Myocardial Infarction in a Premenopausal Woman on Leuprolide Therapy
Authors: Irving E Perez, Mark A Menegus, Cynthia C Taub
Journal: Case Rep Med (2015)

Premenopausal women with chest pain syndrome may have nonatherosclerotic coronary arteries with abnormal coronary flow. Estrogens have cardioprotective effect improving coronary vasodilatation. This case report discusses the consequences of leuprolide use by decreasing estrogen levels which led to acute myocardial infarction.