OpenMed/multicare-articles huggingface dataset:
Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome
Authors: Ming-ming Yang, Mary Ho, Henry H W Lau, Pancy O S Tam, Alvin L Young, Chi Pui Pang, Wilson W K Yip, LiJia Chen
Journal: Mol Vis (2013)
MeSH terms: Asian People / genetics, Duane Retraction Syndrome / genetics, Mutation / genetics, Pedigree, Transcription Factors / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Aged, Amino Acid Sequence, Base Sequence, Child, Preschool, China, DNA Mutational Analysis, Duane Retraction Syndrome / physiopathology, Female, Fixation, Ocular / genetics, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Male, Molecular Sequence Data, Phenotype, Transcription Factors / chemistry, SALL4 protein, human, Transcription Factors

Purpose:
To determine the underlying genetic cause of Duane retraction syndrome (DRS) in a non-consanguineous Chinese Han family.
Methods:
Detailed ophthalmic and physical examinations were performed on all members from a pedigree with DRS. All exons and their adjacent splicing junctions of the sal-like 4 (SALL4) gene were amplified with polymerase chain reaction and analyzed with direct sequencing in all the recruited family members and 200 unrelated control subjects.
Results:
Clinical examination revealed a broad spectrum of phenotypes in the DRS family. Mutation analysis of SALL4 identified a novel heterozygous duplication mutation, c.1919dupT, which was completely cosegregated with the disease in the family and absent in controls. This mutation was predicted to cause a frameshift, introducing a premature stop codon, when translated, resulting in a truncated SALL4 protein, i.e., p.Met640IlefsX25. Bioinformatics analysis showed that the affected region of SALL4 shared a highly conserved sequence across different species. Diversified clinical manifestations were observed in the c.1919dupT carriers of the family.
Conclusions:
We identified a novel truncating mutation in the SALL4 gene that leads to diversified clinical features of DRS in a Chinese family. This mutation is predicted to result in a truncated SALL4 protein affecting two functional domains and cause disease development due to haploinsufficiency through nonsense-mediated mRNA decay.
Wilkie's Syndrome following Chemotherapy: A Case Report and a Review of Literature
Authors: Nicholas J Corsi, Ahmad A Abu-Heija, Anand Kumar Ravi, Matthew P Corsi, Murray N Ehrinpreis
Journal: Case Rep Gastrointest Med (2022)
MeSH terms: Case Reports

Superior mesenteric artery (SMA) syndrome is a rare etiology of upper gastrointestinal obstruction. The measured angle between the SMA and the aorta is typically between 38 and 65° and maintained by mesenteric fat. Excessive fat loss can lead to intestinal obstruction due to an exaggerated acute angularity of the SMA, compressing the third part of the duodenum. We present a 22-year-old female with a history of aplastic anemia, status post bone-marrow transplant, who presented with intractable nausea and had confirmed SMA syndrome on CT angiography. Subsequently, the patient underwent nasogastric decompression and successful laparoscopic duodenojejunostomy.
Macular hole and vitreous hemorrhage subsequent to stereotactic hypofractionated radiotherapy for choroidal melanoma: A case report and review of the literature
Authors: Xiaoyin Zhou, Hiroto Ishikawa, Fumi Gomi
Journal: Front Oncol (2022)
Keywords: case report, choroidal melanoma, macular hole, pars plana vitrectomy, stereotactic hypofractionated radiotherapy, vitreous hemorrhage
MeSH terms: Case Reports

Choroidal melanoma is the leading primary intraocular tumor with potentially fatal outcomes in adults. The coexistence of choroidal melanoma and a macular hole is extremely rare, and treatment strategies and information on the prognosis of associated complications are currently lacking. We report the first case of choroidal melanoma complicated with a macular hole and vitreous hemorrhage after stereotactic hypofractionated radiotherapy in Japan, and review the relevant literature in relation to the possible mechanisms, treatment strategies, and outcomes. An 83-year-old male with choroidal melanoma was treated with stereotactic hypofractionated radiotherapy in January 2021. Five months later, a full-thickness macular hole developed, followed by an acute massive vitreous hemorrhage about 2 weeks later. Following confirmation of tumor regression, the patient underwent a pars plana vitrectomy and internal limiting membrane peeling. The macular hole was closed postoperatively and the patient's best-corrected visual acuity improved to 20/125. There was no evidence of intraocular tumor dissemination or distant metastases during follow-up. A systematic literature search only identified 10 previous cases of choroidal melanoma with a macular hole in eight reports worldwide, mainly in females. Macular edema may be the primary cause of macular hole formation in these cases. Most patients who underwent vitrectomy for complications after tumor regression achieved a good prognosis. The development of a macular hole is a rare complication associated with choroidal melanoma. Anterior-posterior traction of posterior vitreous detachment and secondary macular edema may have contributed to the formation of the macular hole in the current case.
A Case of Disseminated Herpes Zoster With Polyneuropathy Following the Third Dose of the Pfizer-BioNTech Vaccine
Authors: Muhammad Riazuddin, Mona H Jefri, Muhammad I Butt, Hathami I Alsalamah, Aamir Nadeem M Ali Sheikh
Journal: Cureus (2023)
Keywords: disseminated herpes zoster, pfizer-biontech, sars-cov2 vaccines, vaccines, varicella zoster reactivation
MeSH terms: Case Reports

SARS-CoV-2 pandemic resulted in the fast development of new vaccines, which helped contain the pandemic, but some adverse events started to rise. Recently, post-administration of mRNA-based vaccines, varicella-zoster virus (VZV) reactivation was reported. We report a case of disseminated herpes zoster with polyneuropathy and cerebrospinal fluid (CSF) findings following the Pfizer-BioNTechvaccine. Our observation aims to increase clinicians' awareness of a possible relationship between herpes zoster reactivation and SARS-CoV-2 vaccines.
COVID-19 Pneumonia in Patients on Chronic Hydroxychloroquine Therapy: Three Cases of COVID-19 Pneumonia
Authors: Awan K Rahman, Adam G Purdy, Peter T Ender
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Hydroxychloroquine has gained popularity as a potential preventative and treatment of COVID-19 pneumonia due to its in vitro activity against the virus. These three cases of COVID-19 pneumonia of varying severities occurred in the setting of chronic hydroxychloroquine use. These cases argue against the use of hydroxychloroquine as a preventative or therapeutic option for COVID-19 pneumonia.
Myocardial infarction with non-obstructive coronary arteries in a patient double-seropositive for anti-glomerular basement membrane and anti-neutrophil cytoplasmic antibodies: A case report
Authors: Marcell Krall, Johannes Gollmer, Marion J Pollheimer, Clemens Reiter, Michael Kolland, Alexander H Kirsch, Andreas Kronbichler, Kathrin Eller, Alexander R Rosenkranz, Balazs Odler
Journal: Front Cardiovasc Med (2022)
Keywords: anca, minoca, anti-gbm, coronary, double-positive, therapy
MeSH terms: Case Reports

We report a case of a patient double-seropositive for anti-glomerular basement membrane (anti-GBM) and anti-neutrophil cytoplasmic antibodies (ANCA) who reported retrosternal chest pain during a regular hemodialysis session associated with ST-segment depression in electrocardiogram and an increase of serum high-sensitivity troponin T. Urgent coronary angiography excluded obstructive coronary artery disease, suggesting the diagnosis of ischemia with non-obstructive coronary arteries. This case illustrates an unusual presentation of cardiovascular involvement in a patient with double-positive ANCA/anti-GBM disease, emphasizing the possible relevance of coronary microvascular dysfunction and the need for close cardiovascular follow-up in this patient population.
Calcifying Acne: An Unusual Extraoral Radiographic Finding
Authors: Thomas Horgan, Catherine McNamara, Anthony Ireland, Jonathan Sandy, James Puryer
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

Calcinosis cutis is a condition of accumulation of calcium salts within the dermis leading to the formation of a calcified mass. This complication has been reported in acne vulgaris and other systemic metabolic disorders. This paper presents a rare case of calcinosis cutis in a 14-year-old male which was found at a routine orthodontic assessment.
Reverse lateral upper arm flaps for treating large soft tissue defects extending from the elbow to the forearm
Authors: Hideki Okamoto, Yohei Kawaguchi, Shinji Miwa, Hisaki Aiba, Hiroya Senda, Satona Murakami, Kazuo Hayakawa, Yuji Joyo, Hideki Murakami, Hiroaki Kimura
Journal: Case Reports Plast Surg Hand Surg (2022)
Keywords: large soft tissue defect, elbow, reverse lateral upper arm flap, trauma, tumor
MeSH terms: Case Reports

In this study, we report three cases wherein reverse lateral upper arm flaps were used to treat very large tissue defects extending from the elbow to the forearm. The flap sizes were 19 × 6.5 cm, 20 × 7 cm, and 17 × 7 cm. All flaps survived and elbow motion recovered sufficiently.
A Case Report on Core Muscles Training for Knee Osteoarthritis Through Core Muscles Activations and Gait Analysis
Authors: D Maryama Ag Daud, Shye Nee Liau, Suhaini Sudi, Malehah Mohd Noh, Nyein Yin Khin
Journal: Cureus (2023)
Keywords: core muscles, electromyogram, knee osteoarthritis, knee pain, resistance training, walking gait, womac
MeSH terms: Case Reports

Knee osteoarthritis (OA) is a chronic joint disease that can affect all ages, but it is more common in the elderly. Pharmacological and non-pharmacological treatments have been invented evolutionarily over the years to halt this disease. Exercise is one of the first-line treatments for knee OA as well as for prevention. This case study features a 47-year-old man who has grade IV bilateral knee OA and has never had any surgery and takes fish oil daily as a supplement. His walking pattern was significantly impacted by the chronic knee discomfort he had in both legs. Thus, the walking gait of this patient was analyzed together with core muscle activation before and after two weeks of core resistance exercise intervention. The knee pain score was assessed using the Western Ontario and McMaster Universities Index (WOMAC). The outcomes of this research depict that core resistance training has the potential to be used as an alternative, non-surgical and non-pharmacological treatment for a patient with knee OA.
Tofacitinib Is an Effective Treatment for Refractory Scleromyositis Associated With Anti-PM/Scl
Authors: Jorge Álvarez Troncoso, Almudena Nuño González, Elena Martínez Robles, Raquel Sorriguieta Torre, Ángel Robles Marhuenda
Journal: Cureus (2023)
Keywords: calcinosis, connective tissue disease associated interstitial lung disease, myocarditis, myositis, scleroderma, scleromyositis, tofacitinib
MeSH terms: Case Reports

Scleromyositis is a rare autoimmune disease characterized by overlapping scleroderma and myositis. This case report discusses the presentation and management of a 28-year-old male with scleromyositis presenting with myositis, arthritis, Raynaud's phenomenon, refractory calcinosis, interstitial lung disease, and myocarditis. This case highlights key points in the systematic approach to immunosuppressive treatment and proposes a novel therapeutic option.
Persistent hepatitis e virus genotype 4 infection in a child with acute lymphoblastic leukemia
Authors: Yansheng Geng, Hongxin Zhang, Weijin Huang, Tim J Harrison, Kunjing Geng, Zhuo Li, Youchun Wang
Journal: Hepat Mon (2014)
Keywords: chronic hepatitis, hepatitis e virus, persistent infection, precursor cell lymphoblastic leukemia-lymphoma
MeSH terms: Case Reports

Introduction:
In general, the hepatitis E virus (HEV) causes acute, self-limiting hepatitis. Prolonged and chronic infections caused by HEV genotype 3 have been found in some immunosuppressed patients in developed countries.
Case presentation:
Here we report a Chinese boy with acute lymphoblastic leukemia, who developed hepatitis E during a period of intensive chemotherapy. Twenty months after the initial infection, HEV viremia was reappeared in the patient, with detectable anti-HEV IgM and IgG and modestly elevated serum transaminases. Sequence analysis of the viral RNAs revealed the reactivation of the HEV genotype 4d strain, indicating viral persistence in the patient.
Conclusions:
To our knowledge, this is the first chronic case confirmed by the prolonged presence of HEV RNA in china. It is also the first reported persistent hepatitis E infection caused by HEV genotype 4.
Low-Grade Myxofibrosarcoma of the Rectus Abdominus Muscle Infiltrating into Abdominal Cavity: A Case Report
Authors: Tadashi Nomura, Shunsuke Sakakibara, Aya Moriwaki, Teruya Kawamoto, Satoshi Suzuki, Takeshi Ishimura, Kazunobu Hashikawa, Hiroto Terashi
Journal: Eplasty (2017)
Keywords: abdominal cavity, myxofibrosarcoma, rectus abdominis muscle
MeSH terms: Case Reports

Objective: Myxofibrosarcoma (MFS) is a relatively rare tumor that is histologically characterized by myxoid stroma and spindle cell proliferation. This tumor most commonly arises as a slow growing, enlarging painless mass in the extremities of elderly patients. Methods: We report a case of a primary, low-grade MFS in the rectus abdominis muscle infiltrating the abdominal cavity of a 75-year-old man. Results: The patient underwent a wide excision of the right abdominal wall mass with a 3-cm surgical margin from the scar due to a biopsy. The tumor infiltrated the urinary bladder, peritoneum, and external iliac vessels. Twenty-six months after the initial operation, he had recurrences in his abdominal wall, urinary bladder, and right iliac vessels. Conclusions: To our knowledge, primary MFS of the muscle in the abdomen has not been documented previously. Although this case was histopathologically classified as a low-grade tumor, it infiltrated the abdominal cavity. The tumor is suspected to have penetrated the abdominal cavity below the linea arcuata, which lacks the posterior sheath of the rectus abdominis muscle; from there, it could easily spread without being blocked by any biological barriers.
A patient with a diagnosis of nodal marginal zone B-cell lymphoma and a t(2;14)(p24;q32) involving MYCN and IGH
Authors: Angela Brown, Isabella Sciascia-Visani, Dianna Farrell, Meg Smith, Clive Felix, Vanaja Mutharajah, Jackie Ruell, Graeme Taylor
Journal: Mol Cytogenet (2019)
Keywords: mycn, marginal zone b-cell lymphoma, translocation
MeSH terms: Case Reports

Background:
Nodal marginal zone B-cell lymphoma is a rare entity in which the cytogenetic findings are not well defined. The t(2;14)(p24;q32) has previously been reported in three patients with blastic mantle cell lymphoma and one patient with follicular lymphoma. This rearrangement has not been reported previously in a patient with a diagnosis of nodal marginal zone B-cell lymphoma.
Case presentation:
We present a male patient who presented with lymphadenopathy. On the basis of his clinicoradiologic presentation, morphological appearances, immunophenotype and molecular findings he was determined to have a diagnosis of nodal marginal zone B-cell lymphoma. Cytogenetic analysis demonstrated a t(2;14)(p24;q32). Further FISH testing showed this rearrangement to involve the MYCN and IGH genes.
Conclusions:
We present the first patient with a diagnosis of nodal marginal zone B-cell lymphoma with a t(2;14)(p24;q32). This rearrangement has been described in three other patients who have had a diagnosis of lymphoma. Our findings suggest this rearrangement is not specific to mantle cell lymphoma or follicular lymphoma. The number of cases described are still too low to draw firm conclusions regarding the nature of this rearrangement. In order to refine the clinical and prognostic picture of this finding, publication of further cases is required.
Neonatal hyperthyroidism associated with isolated submandibular sialadenitis: is it just a coincidence?
Authors: Ayşın Uçkun Kitapçı, Ali Süha Çalıkoğlu
Journal: J Clin Res Pediatr Endocrinol (2010)
Keywords: hyperthyroidism, isolated, neonatal, sialadenitis, submandibular
MeSH terms: Hyperthyroidism / complications, Infant, Newborn, Diseases, Sialadenitis / complications, Submandibular Gland Diseases / complications, Case Reports, Female, Graves Disease / complications, Humans, Infant, Newborn, Male, Pregnancy, Pregnancy Complications

Isolated submandibular sialadenitis is extremely rare in the neonatal period. All reported cases had predisposing factors such as prematurity, dehydration, anatomic deformities, calculi, and long-term oro-gastric tube feeding. Here, we present a case of neonatal isolated submandibular sialadenitis without any known risk factors and who was diagnosed later with hyperthyroidism secondary to maternal Graves' disease. Both sialadenitis and hyperthyroidism resolved with appropriate treatment. While both conditions are rare and important in neonatal emergency care, the possibility of neonatal hyperthyroidism should be explored in cases with isolated sialadenitis if there is no other risk factor. Possible mechanisms for this uncommon association are discussed.
Portal vein thrombosis
Authors: Ronny Cohen, Thierry Mallet, Michael Gale, Remigiusz Soltys, Pablo Loarte
Journal: Case Rep Vasc Med (2015)

Portal vein thrombosis (PVT) is the blockage or narrowing of the portal vein by a thrombus. It is relatively rare and has been linked with the presence of an underlying liver disease or prothrombotic disorders. We present a case of a young male who presented with vague abdominal symptoms for approximately one week. Imaging revealed the presence of multiple nonocclusive thrombi involving the right portal vein, the splenic vein, and the left renal vein, as well as complete occlusion of the left portal vein and the superior mesenteric vein. We discuss pathogenesis, clinical presentation, and management of both acute and chronic thrombosis. The presence of PVT should be considered as a clue for prothrombotic disorders, liver disease, and other local and general factors that must be carefully investigated. It is hoped that this case report will help increase awareness of the complexity associated with portal vein thrombosis among the medical community.
A Case Report of Esophageal Perforation: Complications of Orogastric Tube Placement
Authors: Yogesh Subedi, Biplov Adhikari, Ashik Pokharel, Kalyan Poudel, Sajja Sharma
Journal: Cureus (2023)
Keywords: complication, esophageal perforation, iatrogenic injury, orogastric tube, pneumomediastinum
MeSH terms: Case Reports

Orogastric tube (OGT) insertion is a routine procedure in medical care. It is often inserted in patients after endotracheal intubation. OGT insertion is often a blind procedure. Misplacement of the tube can cause a variety of complications and can sometimes be life-threatening. We present the case of a 71-year-old male patient who experienced a rare proximal esophageal perforation as a complication of blind insertion of the OGT; he required OGT insertion after receiving endotracheal intubation for hypoxic respiratory failure secondary to COVID-19 infection. The esophageal perforation was revealed on a post-procedural roentgenogram and confirmed by a subsequent computed tomography of the chest. Given the small size of the perforation and the absence of clinical instability, conservative management was pursued leading to improvement of the mediastinitis. Although the complications of OGT insertion are uncommon, their consequences can be potentially serious and require a high degree of suspicion.
Atraumatic Splenic Rupture Associated with Influenza A (H1N1) Pneumonia: Case Report and Review of the Literature
Authors: Dilraj Deol, Huimin Wu, Anayansi Lasso-Pirot, Kathryn S Robinett, Montserrat Diaz-Abad
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

Influenza virus infection may present with fever, chills, headache, myalgia, malaise, and respiratory symptoms, with a few cases developing into pneumonia, respiratory failure, and other organ damage. Very few cases of atraumatic splenic rupture associated with influenza infection have been reported. Atraumatic splenic rupture, while rare, is associated with high mortality. Here, we report the first case of atraumatic splenic rupture associated with influenza infection in the English literature and review the prior reported literature. The patient was diagnosed with influenza A (H1N1) pneumonia and subsequently developed hemorrhagic shock requiring emergency laparotomy and removal of the ruptured spleen.
Pleuritic chest pain from portal hypertensive gastropathy in ESRD patient with autosomal dominant polycystic kidney disease misdiagnosed as pericarditis
Authors: Macaulay Amechi Chukwukadibia Onuigbo, Nneoma Agbasi, Jennifer Achebe, Charles Odenigbo, Fidelis Oguejiofor
Journal: J Renal Inj Prev (2016)
Keywords: adpkd, chest pain, end stage renal disease, gastropathy, pericarditis, portal hypertensive gastropathy
MeSH terms: Case Reports

Portal hypertensive gastropathy (PHG) is a gastric mucosal lesion complicating portal hypertension, with higher prevalence in decompensated cirrhosis. PHG can sometimes complicate autosomal dominant polycystic kidney disease (ADPKD) due to the presence of multiple liver cysts. Besides, PHG is known to present as chest pain, with or without hematemesis. Other causes of chest pain in ADPKD include referred chest pain from progressively enlarging kidney cysts, and rare pericardial cysts. Chest pain, especially if pleuritic, in end-stage renal disease (ESRD) patients, is often ascribed to uremic pericarditis. We present recurrent pleuritic chest pain in a 24-year old ESRD patient with ADPKD that was initially misdiagnosed as uremic pericarditis. It was ultimately shown to represent symptomatic PHG with excellent therapeutic response to proton pump inhibitors.
Amisulpride withdrawal dyskinesia: a case report
Authors: Yu-Chi Lo, Ying-Chieh Peng
Journal: Ann Gen Psychiatry (2017)
Keywords: abnormal involuntary movement, amisulpride, antipsychotics, case report, dyskinesia, schizophrenia, side effects, withdrawal
MeSH terms: Case Reports

Background:
The effects of antipsychotic drug withdrawal have been inadequately studied. Case reports have described dyskinesia occurring in patients with several antipsychotics withdrawn, but studies on amisulpride withdrawal dyskinesia are lacking.
Case presentation:
A 63-year-old man, who was diagnosed with schizophrenia at age 49, received amisulpride treatment since age 62. The dosage of amisulpride was reduced from 200 to 50 mg/day because of occurrence of akathisia during one admission. Severe withdrawal dyskinesia, mixed with dystonia and akathisia, was noted immediately after the dosage reduction. The abnormal involuntary movement showed improvement 2 weeks later when the dosage was increased to 100 mg/day.
Conclusions:
Withdrawal dyskinesia and other abnormal involuntary movements could be noted in a patient with reduction of amisulpride dosage or sudden termination. Withdrawal dyskinesia may subsequently lead to persistent tardive dyskinesia. Therefore, withdrawal-emergent dyskinesia should be promptly identified, and appropriate medical interventions should be given early.