OpenMed/multicare-articles huggingface dataset:
Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy
Authors: Louise Sloth Kodal, Sophia Hammer-Hansen, Sonja Holm-Yildiz, Karen Grønskov, Helena Gásdal Karstensen, Tina Dysgaard
Journal: Front Neurol (2022)
Keywords: case report, hereditary neuropathy, optic atrophy, polyneuropathy, whole exome sequencing
MeSH terms: Case Reports

SLC25A46 is a mitochondrial protein involved in mitochondrial dynamics. Recently, bi-allelic variants have been identified as a pathogenic cause in a spectrum of neurological syndromes. We report a novel homozygous SLC25A46 variant in two siblings, originating from Iraq. Both presented with optic atrophy and varying neurological symptoms. The neurological examination and nerve conduction studies were consistent with sensorimotor polyneuropathy, one having mild polyneuropathy and the other pronounced polyneuropathy. The cases illustrate the disease spectrum and provide substantial information to the knowledge of polyneuropathy caused by SLC25A46 variants. It further highlights the diagnostic potentials of whole exome sequencing which can improve future understanding of disease mechanisms.
Dysphagia due to Diffuse Idiopathic Skeletal Hyperostosis
Authors: Masafumi Ohki
Journal: Case Rep Otolaryngol (2012)
MeSH terms: Case Reports

Diffuse idiopathic skeletal hyperostosis (DISH) is usually asymptomatic. However, rarely, it causes dysphagia, hoarseness, dyspnea, snoring, stridor, and laryngeal edema. Herein, we present a patient with DISH causing dysphagia. A 70-year-old man presented with a 4-month history of sore throat, dysphagia, and foreign body sensation. Flexible laryngoscopy revealed a leftward-protruding posterior wall in the hypopharynx. Computed tomography and magnetic resonance imaging revealed a bony mass pushing, anteriorly, on the posterior hypopharyngeal wall. Ossification included an osseous bridge involving 5 contiguous vertebral bodies. Dysphagia due to DISH was diagnosed. His symptoms were relieved by conservative therapy using anti-inflammatory drugs. However, if conservative therapy fails and symptoms are severe, surgical treatments must be considered.
A Unique Compensatory Mechanism for Total Pulmonary Vein Occlusion Post Atrial Fibrillation Catheter Ablation Visualized by Multimodality Imaging
Authors: Ayman R Fath, Amro Aglan, Luis R Scott, Clinton E Jokerst, Hemalatha Narayanasamy, Farouk Mookadam, Nawfal Mihyawi, Nithin R Venepally, Sudheer Konduru, Reza Arsanjani
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

Pulmonary vein (PV) stenosis is a rare and serious complication of radiofrequency catheter ablation (RFCA) for atrial fibrillation. However, it can be asymptomatic or mildly symptomatic depending on the severity of the stenosis and the development of compensatory mechanisms. This study provides a detailed description and visualization of a unique type of venous collaterals that bypass the PV stenosis and drain directly in the left atrium alleviating PV stenosis sequelae. This study reports a case of a 61-year-old male who presented with mild dyspnea and fatigue 3 years post atrial fibrillation RFCA. After a thorough evaluation of the case, a redo-ablation was planned. As a part of the preablation workup, a transesophageal echocardiography (TEE), a ventilation-perfusion (V/Q) scan of the lungs, and a chest computed tomography angiogram (CTA) were performed. The TEE revealed total obstruction of the left superior PV, with no color Doppler flow detected. It also showed evidence of multiple collateral flows at the os of the left superior PV. The V/Q scan showed a large perfusion defect involving the entire left upper lobe consistent with a compromised left upper PV flow. The CTA with 3D volume rendering revealed the total occlusion of the left superior PV at its ostium. Moreover, the scan confirmed the pulmonary venous drainage via small collateral channels that was suggested by the TEE.
Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome
Authors: Yeqing Qian, Jiao Liu, Yanmei Yang, Min Chen, Chunlei Jin, Penglong Chen, Yongliang Lei, Hangyi Pan, Minyue Dong
Journal: Front Genet (2019)
Keywords: satb2-associated syndrome, chromosome microarray analysis, droplet digital pcr, gap-pcr, mosaicism
MeSH terms: Case Reports

Mutations of SATB2 (OMIM#608148) gene at 2q33.1 have been associated with the autosomal dominant SATB2-associated syndrome (SAS), which is still short of comprehensive diagnosis technologies for small deletions and low-level mosaicism. In this Chinese Han family, single nucleotide polymorphism array identified a 4.9-kb deletion in the SATB2 gene in two consecutive siblings exhibiting obvious developmental delay and dental abnormalities but failed to find so in their parents. Prenatal diagnosis revealed that their third child carried the same deletion in SATB2 and the pregnancy was terminated. To determine the genetic causes behind the inheritance of SATB2 deletion, gap-PCR was performed on peripheral blood-derived genomic DNA of the family and semen-derived DNA from the father. Gap-PCR that revealed the deletions in the two affected siblings were inherited from the father, while the less intense mutant band indicated the mosaicism of this mutation in the father. The deletion was 3,013 bp in size, spanning from chr2: 200,191,313-200,194,324 (hg19), and covering the entire exon 9 and part of intron 8 and 9 sequences. Droplet digital PCR demonstrated mosaicism percentage of 13.2% and 16.7% in peripheral blood-derived genomic DNA and semen-derived DNA of the father, respectively. Hereby, we describe a family of special AT-rich sequence-binding protein 2-associated syndrome caused by paternal low-level mosaicism and provide effective diagnostic technologies for intragenic deletions.
Computational Prediction of the Combined Effect of CRT and LVAD on Cardiac Electromechanical Delay in LBBB and RBBB
Authors: Aulia K Heikhmakhtiar, Ki M Lim
Journal: Comput Math Methods Med (2018)
MeSH terms: Bundle-Branch Block / physiopathology, Bundle-Branch Block / therapy, Cardiac Resynchronization Therapy, Heart-Assist Devices, Biomechanical Phenomena, Bundle-Branch Block / pathology, Combined Modality Therapy, Computer Simulation, Electrophysiological Phenomena, Heart Failure / pathology, Heart Failure / physiopathology, Heart Failure / therapy, Heart Ventricles / pathology, Heart Ventricles / physiopathology, Humans, Imaging, Three-Dimensional, Mathematical Concepts, Models, Cardiovascular

Two case reports showed that the combination of CRT and LVAD benefits the end-stage heart failure patients with prolonged QRS interval significantly. In one of the reports, the patient had the LVAD removed due to the recovery of the heart function. However, the quantification of the combined devices has yet to be conducted. This study aimed at computationally predicting the effects of CRT-only or combined with LVAD on electromechanical behaviour in the failing ventricle with left bundle branch blocked (LBBB) and right bundle branch blocked (RBBB) conditions. The subjects are normal sinus rhythm, LBBB, RBBB, LBBB with CRT-only, RBBB with CRT-only, LBBB with CRT + LVAD, and RBBB with CRT + LVAD. The results showed that the CRT-only shortened the total electrical activation time (EAT) in the LBBB and RBBB conditions by 20.2% and 17.1%, respectively. The CRT-only reduced the total mechanical activation time (MAT) and electromechanical delay (EMD) of the ventricle under LBBB by 21.3% and 10.1%, respectively. Furthermore, the CRT-only reduced the contractile adenosine triphosphate (ATP) consumption by 5%, increased left ventricular (LV) pressure by 6%, and enhanced cardiac output (CO) by 0.2 L/min under LBBB condition. However, CRT-only barely affects the ventricle under RBBB condition. Under the LBBB condition, CRT + LVAD increased LV pressure and CO by 10.5% and by 0.9 L/min, respectively. CRT + LVAD reduced ATP consumption by 15%, shortened the MAT by 23.4%, and shortened the EMD by 15.2%. In conclusion, we computationally predicted and quantified that the CRT + LVAD implementation is superior to CRT-only implementation particularly in HF with LBBB condition.
Acute vulvar pain in a lady with post circumcision inclusion cyst of the vulva containing stones: a case report
Authors: Wondimu Gudu
Journal: BMC Womens Health (2014)
MeSH terms: Circumcision, Female, Epidermal Cyst, Pain, Postoperative Complications, Vulvar Diseases, Case Reports, Female, Humans, Young Adult

Background:
Despite global eradication efforts, female genital cutting is still deep routed practice in some parts of Asia and East Africa. The crude and unscientific natures of the practice lead to many complications. Epidermoid inclusion cysts of the vulva are one of the late complications of female genital cutting and typically present as painless cystic swellings. But clinical presentation as 'stone' containing, hard vulvar mass is reported only once in the literature and presentation with acute vulvar pain has never been documented.
Case presentation:
A 21 yrs old, Ethiopian, unmarried, lady presented with sever acute vulvar pain, discharge, and a stony hard vulvar swelling 13 years after type-III female genital cutting (infibulation). Surgical excision of the cyst, which contained two 'stones' inside it, and defibulation were done. Histopathology confirmed calcified, keratinizing epidermoid inclusion cyst of the vulva.
Conclusions:
Clinicians, in areas where female genital cutting is prevalent, should be aware of such unusual late vulvar complication of the practice which might be misdiagnosed for other solid vulvar swellings and be familiar with the appropriate management.
Ectopic Intratracheal Thyroid: A Rare Cause of Airway Obstruction
Authors: Waheed Rahman, Nafil Ishaq Arimbrathodi, Faisal Abdulkader, Hussain Al-Enazi, Zeynel A Dogan
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

Ectopic intratracheal thyroid tissue (EITT) is a rare abnormality with only limited cases reported so far. The presenting symptoms can be very similar to those of bronchial asthma. We discuss the case of a 29-year-old man with subglottic ectopic thyroid, with a history of thyroid surgery for goiter, which has been managed with laser-assisted endoscopic approach. We have also included presenting symptoms, pathophysiology, diagnosis, and management of EITT. We aim to include EITT in the differentials of airway obstruction, particularly in those patients who have goiter or previous thyroid surgeries.
Scintigraphic features of Morquio's syndrome: a case report
Authors: Bjoern Kitzing, Kevin C Allman
Journal: J Med Case Rep (2011)

Introduction:
To the best of our knowledge, we present for the first time the bone scintigraphy findings of a patient with Morquio's syndrome.
Case presentation:
A 46-year-old Caucasian man with Morquio's syndrome presented with lower back pain six weeks after a left total hip replacement. A whole body bone scan demonstrated an anthropomorphic skeletal pattern consistent with a mucopolysaccharide storage disease, thereby showing the cause of the patient's pain.
Conclusions:
To the best of our knowledge, the bone scintigraphy findings of a case of Morquio's syndrome have never before been published. We present our case report to add to the knowledge we have of this rare disease.
A Primary Mediastinal Large B-Cell Lymphoma Patient With COVID-19 Infection After Intensive Immunochemotherapy: A Case Report
Authors: Qiuhui Li, Fang Zhu, Yin Xiao, Tao Liu, Xinxiu Liu, Gang Wu, Liling Zhang
Journal: Front Oncol (2020)
Keywords: covid-19, chemotherapy, immunotherapy, lymphoma, myelosuppression
MeSH terms: Case Reports

Background: The outbreak of coronavirus disease 2019 (COVID-19) had become a global public health event. Lymphoma patients need to be distinguished from the general population because of their deficient immune status and intensive anti-tumor treatment. The impacts of cancer subtypes and treatment on COVID-19 infection are unclear. Case Presentation: We here report the case of a primary mediastinal large B-cell lymphoma patient who was infected with COVID-19 after intensive immunochemotherapy (DA-EPOCH-R). The patient developed a neutropenic fever during chemotherapy, and fever was persistent, although antibiotics were used. Initial chest CT was negative, and the patient received a throat swab test since the second CT showed evidence of pneumonia. With treatment with Arbidol Hydrochloride and LianHuaQingWen capsule, his COVID-19 was cured. Conclusions: To the best of our knowledge, this is the first report focusing on COVID-19 infection in a lymphoma patient undergoing intensive immunochemotherapy. For those patients being treated with immunochemotherapy in epidemic areas, a reduced dose intensity of intensive chemotherapy should be considered, and the effect of immunotherapies such as rituximab on COVID-19 infection should be considered. The impacts of anti-cancer treatment on COVID-19 infection need to be explored further.
Liver Transplantation in a Myopathic Patient with Glycogen Storage Disease Type IIIa and Decompensated Cirrhosis
Authors: M Zobeiri
Journal: Int J Organ Transplant Med (2017)
Keywords: cirrhosis, glycogen storage disease types iii, liver cirrhosis, liver diseases, liver transplantation
MeSH terms: Case Reports

Glycogen storage disease (GSD) type IIIa (Forbes-Cori disease) can be associated with severe liver disease. A patient with GSD type IIIa may therefore be a potential candidate for liver transplantation. Progressive myopathy makes uncertain the outcome of the patient and the transplant. Herein, we report on the good results of liver transplantation up to 28 months after the transplantation in a 40-year-old man with liver cirrhosis and significant muscle weakness due to GSD type IIIa.
Acquired ALK G1202R-, ALK I1171N-, or EML4-ALK-mediated resistance to ensartinib in lung adenocarcinoma but responded to lorlatinib: A case report
Authors: Zhifeng Ye, Junhua Guo
Journal: Front Oncol (2023)
Keywords: i1171n, ensartinib, lorlatinib, lung cancer, multiple alk mutations
MeSH terms: Case Reports

ALK rearrangements are identified as driver mutations in non-small-cell lung cancer (NSCLC). EML4 is the most common partner of ALK rearrangements. Here, we reported a patient with lung adenocarcinoma who was identified with EML4-ALK mutations when he progressed on an immune checkpoint inhibitor. The patient was treated with alectinib and obtained a progression-free survival (PFS) of 24 months. Then, next-generation sequencing on circulating tumor DNA identified multiple ALK mutations, including ALK G1202R, I1171N, ALK-ENC1, and EML4-ALK. Ensartinib was given, and the patient achieved a PFS of 5 months. After progression, lorlatinib was administered, and the patient achieved a partial response. Now, the benefit is still ongoing with a PFS over 10 months. Our case may provide evidence for the treatment choice of multiple ALK mutations, including ALK I1171N.
Ischemic toes after venous thromboembolism: a difficult differential diagnosis with good response to combination therapy-a case report
Authors: Mohammad Bagher Owlia, Ahmad Salimzadeh, Gholmhossein Alishiri, Saeed Kargar
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

The obliteration of the arterial vascular system of toes is considered as a potentially catastrophic event in clinical practices. In most instances, the cessation of arterial blood flow heralds a serious underlying pathology. A definite classification of some cases is somehow difficult and subject to diagnostic challenges. The aim of the present case study is to share and discuss potentially complex and multifactorial mechanisms of some acute vascular events. In this report, we deal with a 46-year-old man with a rather gradual-onset ischemia of his toe who responded favorably to a combination of pulsed glucocorticoid and anticoagulation within a week.
Emergency pancreaticoduodenectomy in duodenal paraganglioma: case report
Authors: Fazl Q Parray, Iqbal M Lone, Nisar A Chowdri, Imtiaz Wani, Mehmood A Wani, G M Gulzar, Natasha Thakur
Journal: ISRN Surg (2011)
MeSH terms: Case Reports

Duodenal gangliocytic paraganglioma (DGP) is a rare tumor that characteristically occurs in the second part of duodenum. These appear as submucosal masses that protrude into the lumen of a duodenum. Gastrointestinal bleeding is the commonest manifestation of DGP. Metastatic spread to regional lymph nodes occurs rarely. Surgical resection is the treatment of choice for DGP. A case of a DGP is reported in young female who presented with a recurrent upper gastrointestinal bleeding. Upper gastrointestinal endoscopy (UGIE) documented a mass in the ampullary region with ulceration in its middle which was bleeding. Recurrent gastrointestinal bleeding necessitated an emergency pancreaticoduodenectomy. Histopathology of specimen documented gangliocytic paraganglioma.
Liquorice health check, Oro-dental implications, and a case report
Authors: Louis Z G Touyz
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Liquorice has an active substance, Glycyrrhizin which inhibits the conversion of precursor cortisol to cortisone by inhibiting the enzyme 11-betahydroxysteroid dehydrogenase. When imbibed, liquorice acts like hyperaldosteronism which presents with typical symptoms including high blood pressure, low blood potassium, and muscle pain and weakness. This article appraises physiological and pharmacological effects on health of liquorice, critiques products containing liquorice, describes a typical case report of liquorice-induced hypertension, and appraises oral effects from consumption of liquorice products.
Case Report: Autoimmune Encephalitis Associated With Anti-glutamic Acid Decarboxylase Antibodies: A Pediatric Case Series
Authors: Changhong Ren, Haitao Ren, Xiaotun Ren, Weihua Zhang, Jiuwei Li, Lifang Dai, Hongzhi Guan, Fang Fang
Journal: Front Neurol (2021)
Keywords: anti-glutamic acid decarboxylase 65, autoimmune encephalitis, extralimbic encephalitis, limbic encephalitis, pediatric
MeSH terms: Case Reports

Background: Antibodies against glutamic acid decarboxylase (GAD) are associated with various neurologic conditions described in patients, including stiff person syndrome, cerebellar ataxia, refractory epilepsy, and limbic and extralimbic encephalitis. There have been some case reports and investigations regarding anti-GAD65 antibody-associated encephalitis in adult populations, but pediatric cases are rare. We retrospectively analyzed the clinical data of three anti-GAD65 antibody-positive patients to explore the diversity and clinical features of anti-GAD65 antibody-associated pediatric autoimmune encephalitis. Methods: The clinical data of a series of three patients positive for anti-GAD65 antibody were retrospectively analyzed. GAD65 antibodies were determined in serum and CSF using a cell-based assay. Results: All three patients were female, and the onset ages were 4 years and 9 months, 6 years, and 16 years old. Their clinical phenotypes included autoimmune limbic encephalitis, extralimbic encephalitis, and encephalitis combining limbic and extralimbic encephalitis. The clinical symptoms included seizures, memory deficits, drowsiness, dysautonomia, and headache. All patients had abnormal carinal MRI and EEG. All patients received immunotherapy and had transiently good responsiveness, but one patient then experienced relapse. In follow-up, one patient with extralimbic encephalitis recovered completely, while two patients with limbic involvement had poor outcomes with refractory focal epilepsy. Conclusion: In addition to limbic encephalitis, extralimbic encephalitis is also an important phenotype in patients who are positive for anti-GAD65 antibodies. Early diagnosis and immunotherapy can improve the symptoms. However, patients with limbic encephalitis often have refractory epilepsy in the chronic phase and have a poor long-term outcome.
Two cases of CRPC with BRCA mutation treated by olaparib after favorable response to cisplatin
Authors: Yoshiyuki Miyazawa, Takanori Shimizu, Yoshitaka Sekine, Seiji Arai, Akira Ohtsu, Yuji Fujizuka, Masashi Nomura, Hidekazu Koike, Hiroshi Matsui, Kazuhiro Suzuki
Journal: IJU Case Rep (2022)
Keywords: brca, castration‐resistant prostate cancer, neuroendocrine prostate cancer, poly(adenosine diphosphate‐ribose) polymerase, prostate cancer
MeSH terms: Case Reports

Introduction:
Several prostate cancers carry homologous recombination repair mutations that respond to olaparib. Because of the mechanism, the efficacy of platinum-based therapy can be used to predict the efficacy of poly(adenosine diphosphate-ribose) polymerase inhibitors such as olaparib.
Case presentation:
We experienced two neuroendocrine prostate cancer patients who achieved a response duration of more than 1 year with platinum-based therapy. Case 1 had a BRCA2 mutation in the germline and case 2 had a BRCA2 mutation in a somatic chromosome only. Both patients responded well to olaparib.
Conclusion:
Cisplatin and olaparib may overlap in response due to their medicinal action. It may be useful to consider genetic testing in some CRPC patients who have responded to cisplatin.
Bilateral Knee Dislocations Treated with Acute, Single-Stage Multiligament Reconstructions
Authors: Casey Imbergamo, Andrzej Brzezinski, Tiffany Smith, Patrick S Buckley, Kenneth G Swan
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

Bilateral knee dislocations are exceedingly rare in orthopaedics. Managing these injuries presents a difficult task given their high complication rate and guarded prognosis. We report the case of a 21-year-old male who presented to our institution with bilateral knee dislocations sustained in a motor vehicle collision. The patient subsequently underwent multiligament knee reconstruction surgeries for each knee at one and three weeks following the initial injury. At one-year follow-up, the patient has achieved a successful outcome and has returned to regular activities which include hiking and exercising at the gym.
Kikuchi-Fujimoto disease following SARS CoV2 vaccination: Case report
Authors: Hussam Al Soub, Wanis Ibrahim, Muna Al Maslamani, Gawahir A Ali, Waseem Ummer, Ala' Abu-Dayeh
Journal: IDCases (2021)
Keywords: covid 19 vaccine, fujimoto, kikuchi, lymphadenopathy, sars cov 2
MeSH terms: Case Reports

Kikuchi's disease (KD) also known as Kikuchi-Fujimoto disease (KFD), or histiocytic necrotizing lymphadenitis was first described in 1972 independently by Kikuchi and Fujimoto et al. It is a benign self-limited condition of unknown etiology which usually presents with cervical lymphadenopathy or fever of unknown origin. The diagnosis of KFD is based on histopathologic examination of the involved lymph node, showing the presence of well-defined necrosis without granulocytic cells. There is no special treatment for KFD. However non-steroidal anti-inflammatory drugs or corticosteroids are required occasionally to control the associated systemic manifestations. The outcome of the disease is usually favorable with resolution of symptoms in most cases within one to four months. We report a case of Kikuchi-Fujimoto disease that occurred in a young Qatari male patient 10 days following receiving the first dose of BNT162b2 vaccine. Diagnosis was established by lymph node biopsy and recovery was complete after 10 days.