OpenMed/multicare-articles huggingface dataset:
Maternal transmission effect of a PDGF-C SNP on nonsyndromic cleft lip with or without palate from a Chinese population
Authors: Di Wu, Mei Wang, Xingang Wang, Ningbei Yin, Tao Song, Haidong Li, Feng Zhang, Yongbiao Zhang, Zhenqing Ye, Jun Yu, Duen-Mei Wang, Zhenmin Zhao
Journal: PLoS One (2012)
MeSH terms: Cleft Lip / genetics, Lymphokines / genetics, Platelet-Derived Growth Factor / genetics, Polymorphism, Single Nucleotide, Research Support, Non-U.S. Gov't, China, Female, Genetic Association Studies, Genetic Predisposition to Disease, Haplotypes, Humans, Linkage Disequilibrium, Male, Microsatellite Repeats, Pedigree, Uniparental Disomy, Lymphokines, Platelet-Derived Growth Factor, platelet-derived growth factor C

Cleft lip with or without palate (CL/P) is a common congenital anomaly with a high birth prevalence in China. Based on a previous linkage signal of nonsyndromic CL/P (NSCL/P) on the chromosomal region 4q31-q32 from the Chinese populations, we screened the 4q31-q32 region for susceptibility genes in 214 trios of Han Chinese. PDGF-C, an important developmental factor, resides in the region and has been implicated in NSCL/P. However, in our family-based association test (transmission disequilibrium test; TDT), we could not conclude an association between PDGF-C and NSCL/P as previously suggested. Instead, we found strong evidence for parent-of-origin effect at a PDGF-C SNP, rs17035464, by a likelihood ratio test (unadjusted p-value = 0.0018; I(m) = 2.46). The location of rs17035464 is 13 kb downstream of a previously reported, NSCL/P-associated SNP, rs28999109. Furthermore, a patient from our sample trios was observed with a maternal segmental uniparental isodisomy (UPD) in a region containing rs17035464. Our findings support the involvement of PDGF-C in the development of oral clefts; moreover, the UPD case report contributes to the collective knowledge of rare variants in the human genome.
Optimal Ethanol-Ethiodol Emulsion Ratio in Renal Angiomyolipoma Embolization: A Question that Remains Unanswered
Authors: Sreeja Sanampudi, Driss Raissi
Journal: J Clin Imaging Sci (2019)
Keywords: angiomyolipoma, emulsion, ethanol, ethiodol, transarterial embolization
MeSH terms: Case Reports

The authors, a case series of five cases of angiomyolipomas (AMLs), embolized with a high ethanol:ethiodol ratio of 6:1 emulsion at a single tertiary center. Although ethanol as an embolic agent has been reported in the past for AMLs, much higher ratios of ethiodol were used, and administration is typically performed using an occlusion balloon. Two of the patients were incidentally diagnosed, while the other four were diagnosed after hematuria workup. Of the five patients, only one developed postembolization syndrome. Otherwise, no complications, recurrences, or reinterventions are reported. Our higher ratio seems to allow for adequate radio-opacity of the emulsion with minimal negative dilution effect.
Septic polyarthritis with Mycoplasma salivarium in a patient with common variable immunodeficiency: case report and review of the literature
Authors: Arthur H Totten, Li Xiao, Donna M Crabb, Amy E Ratliff, Ken B Waites, Tracy Hwangpo, T Prescott Atkinson
Journal: Access Microbiol (2021)
Keywords: mycoplasma salivarium, bacterial arthritis, common variable immunodeficiency, hypogammaglobulinemia
MeSH terms: Case Reports

Mycoplasma salivarium is a common mycoplasma usually isolated from human oropharynx, particularly from individuals with periodontal disease. It is also among the more common mycoplasmal contaminants of eukaryotic cell cultures. Although M. salivarium has been isolated occasionally from abscesses and other sterile sites, to our knowledge, only three cases of septic arthritis have been documented in the past due to this organism, all in patients with humoral immunodeficiency. We now report a fourth case of septic polyarthritis in a patient with profound hypoimmunoglobulinemia who had experienced dental abscesses within the preceding 2 years. Our case highlights the importance of considering invasive mycoplasmal infection in hypogammaglobulinemic patients. It is likely of significance that the patient had suffered recurrent dental abscesses as a source of infection with M. salivarium .
Markedly Reduced Thermal Pain Perception in a Schizoaffective Patient with Tardive Dyskinesia
Authors: Stéphane Potvin, Emmanuel Stip, Serge Marchand
Journal: Case Rep Psychiatry (2016)

Several case reports have described stories of schizophrenia patients reporting no discomfort in response to several medical conditions which normally elicit pain. Comparatively, experimental studies performed on pain perception in schizophrenia have not documented hypoalgesic responses that are as frank as those reported in these clinical cases. Here, we report the case of a female patient with schizoaffective disorder, who displayed markedly reduced pain perception during an experimental heat pain paradigm. Compared to a large group of healthy volunteers that we tested in 3 previous studies using the same psychophysical procedure, the experimental temperature required to induce moderate pain was radically increased in this patient (z-score = 3.6). The patient had mild psychiatric symptoms and had insight into her symptoms. She had drug-induced dyskinetic symptoms. This case report illustrates that it is possible to observe marked reductions in pain perception in schizophrenia patients tested in experimental settings but that the phenomenon is relatively rare. Regardless of the exact nature of pain indifference in schizophrenia, it can delay diagnosis and treatment of medical problems in these patients. Future studies in the field will need to pay attention to drug-induced extrapyramidal symptoms.
Chronic neck pain associated with an old odontoid fracture: a rare presentation
Authors: Mauricio Avila-Guerra
Journal: Case Rep Emerg Med (2013)

Cervical spine injuries represent a minority of injury cases in motor vehicles accidents but are a real threat to a patient's life. In the wide range of cervical spine injuries, odontoid (dens) fractures represent the most common findings. These fractures are more usually found in the elderly population due to the changes associated with age. Neurological deficit is not frequently found in these injuries. The following is a case presentation of a chronic odontoid fracture with neurological deficit in a young man that was discovered 23 years after he sustained a motor vehicle accident.
A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease
Authors: Nadia K Waheed, Ahmed H Qavi, Sarah N Malik, Maleeha Maria, Moeen Riaz, Frans P M Cremers, Maleeha Azam, Raheel Qamar
Journal: Mol Vis (2012)
MeSH terms: Arrestin / genetics, G-Protein-Coupled Receptor Kinase 1 / genetics, Methylenetetrahydrofolate Reductase (NADPH2) / genetics, Night Blindness / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Alleles, Codon, Nonsense, DNA Mutational Analysis, Eye Diseases, Hereditary, Female, Homozygote, Humans, Hyperhomocysteinemia / complications, Hyperhomocysteinemia / genetics, Lupus Erythematosus, Systemic / complications, Lupus Erythematosus, Systemic / genetics, Night Blindness / complications, Pakistan, Pedigree, Siblings, Sinus Thrombosis, Intracranial / complications, Sinus Thrombosis, Intracranial / genetics, Arrestin, Codon, Nonsense, MTHFR protein, human, Methylenetetrahydrofolate Reductase (NADPH2), G-Protein-Coupled Receptor Kinase 1, GRK1 protein, human, Oguchi disease

Purpose:
Genetic studies were performed to identify the causative mutation in a 15-year-old girl diagnosed with congenital stationary night blindness (CSNB) presenting Mizuo-Nakamura phenomenon, a typical Oguchi disease symptom. The patient also had dural sinus thrombosis (DST), thrombocytopenia, and systemic lupus erythematosus (SLE).
Methods:
Mutation analysis was done by sequencing two candidate genes, S-antigen (SAG; arrestin 1), associated with Oguchi type 1, and rhodopsin kinase (GRK1), associated with Oguchi type 2. In addition, the C677T variation in the methylenetetrahydrofolate reductase (MTHFR) gene was also screened in the family, to determine its probable association with hyperhomocysteinemia in the patient.
Results:
Sequencing of the SAG and GRK1 resulted in identifying a novel homozygous nonsense mutation (c.916G>T; p.Glu306*) in SAG, which in unaffected siblings either was present in a heterozygous state or absent. The C677T heterozygous allele in the MTHFR gene was found to be associated with hyperhomocysteinemia in the patient and other family members.
Conclusions:
This is the first report of Oguchi type 1 in a Pakistani patient due to a nonsense mutation (c.916G>T; p.Glu306*) in SAG. The neurologic and hematological abnormalities likely are not associated with the SAG variant.
Sustained disease-free survival achieved with withdrawal of immunosuppression after rapid relapse of myelodysplastic syndrome following myeloablative allogeneic hematopoietic transplantation: a case report
Authors: Betty K Hamilton, Gregory Vereb, Edward A Copelan
Journal: J Med Case Rep (2013)

Introduction:
Relapse after allogeneic hematopoietic stem cell transplantation in patients with myelodysplasia is a challenging problem with limited treatment options. Attempts to induce a graft-versus-leukemia effect have been used with limited success. In patients with myelodysplasia, sustained complete remissions have generally been limited to patients with long-term remission after transplant and those with low numbers of marrow blasts.
Case presentation:
We report the case of a 41-year-old Caucasian woman with relapsed myelodysplastic syndrome and a high blast percentage six months after undergoing an allogeneic transplant who achieved a sustained complete remission after withdrawal of immunosuppression alone.
Conclusion:
This case highlights the importance of a reasonable period of observation after withdrawing immunosuppression to induce graft-versus-leukemia, and the potential effectiveness of that approach.
Spontaneous Coronary Artery Dissection in a Patient with a Family History of Fatal Ascending Aortic Dissection: Case Report and Discussion of Diseases Causing Both Presentations
Authors: George Joy, Hany Eissa
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Background:
Spontaneous coronary artery dissection (SCAD) is a rare cause of acute coronary syndrome (ACS). Aortic dissection and SCAD share common aetiologies such as a fibromuscular dysplasia (FMD), Marfan, Ehlers Danlos, and more rarely systemic lupus erythematosus and Loeys-Dietz; however, SCAD has never been known to have a familial association with aortic dissection.
Case summary:
This case report describes a 48-year-old woman suffering from SCAD who had a mother who died from ascending aortic dissection in her 50s.
Discussion:
This is the first case report to our knowledge of a patient with SCAD with a first-degree relative with aortic dissection. Our case is interesting in that it shows that if predisposition to arterial dissection was inherited from mother to daughter, one of them suffered an extremely rare manifestation of their underlying disease. It also shows that a high index of suspicion is needed for SCAD in the presence of a patient with ACS and a family history of dissection elsewhere in the arterial tree.
Infiltrating ductal carcinoma of the breast with coexisting lymphocytic mastitis in a non-diabetic adult female
Authors: Jobin Mathew Jose, Anusha Varghese, George Joseph, Susmitha Keerthi, Jophy Varghese
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Lymphocytic mastitis, also known as diabetic mastopathy or sclerosing lymphocytic lobulitis, is a benign clinicopathological entity that, in earlier studies, has been described as an uncommon cause of breast mass in adult females with long-standing insulin-dependent diabetes mellitus. Further studies have suggested an autoimmune aetiology owing to its association with other autoimmune diseases such as Hashimoto's thyroiditis. On clinical examination, mammography and ultrasound, this lesion may mimic breast carcinoma. The most common mammographic findings are ill-defined masses or asymmetric densities. Such lesions are often masked by dense glandular tissue, making mammographic evaluation difficult. Ultrasound often reveals the characteristic finding of an irregular, hypoechoic mass with marked posterior acoustic shadowing. We present a case of infiltrating ductal carcinoma with coexisting lymphocytic mastitis involving the right breast of a non-diabetic adult female who presented with complaints of a painless, hard palpable lump in her right breast for 2 months. Mammography and ultrasonography showed features of a malignant lesion that was subjected to fine needle aspiration cytology and tru-cut biopsy examination. Cytology revealed features suggestive of infiltrating ductal carcinoma in a background of severe inflammation and necrosis. Tru-cut biopsy showed features suggestive of lymphocytic mastitis. The patient underwent modified radical mastectomy of the right breast. Histopathological examination of right breast tissue revealed multifocal infiltrating ductal carcinoma, metastatic ipsilateral axillary lymph nodes, lymphovascular tumour emboli and tumour-free margins. The patient underwent adjuvant chemotherapy and radiotherapy. She is on hormone therapy with a selective oestrogen receptor modulator and is disease-free now.
Possible macrophage activation syndrome following initiation of adalimumab in a patient with adult-onset Still's disease
Authors: Leila Souabni, Leila Dridi, Kawther Ben Abdelghani, Selma Kassab, Selma Chekili, Ahmed Laater, Leith Zakraoui
Journal: Pan Afr Med J (2014)
Keywords: adult-onset still′s disease, adalimumab, hemophagocytic syndrome, macrophage activation syndrome
MeSH terms: Anti-Inflammatory Agents / adverse effects, Antibodies, Monoclonal, Humanized / adverse effects, Macrophage Activation Syndrome / chemically induced, Macrophage Activation Syndrome / diagnosis, Still's Disease, Adult-Onset / drug therapy, Case Reports, Adalimumab, Adult, Female, Humans, Anti-Inflammatory Agents, Antibodies, Monoclonal, Humanized, Adalimumab

Macrophage activation syndrome (MAS) has been rarely reported in the course of adult-onset Still's disease (AOSD) and in the majority of cases, it was triggered by an infection. Here, we report, to our knowledge, the first case of MAS occurring after adalimumab treatment initiation and not triggered by an infection. A 26-yearold woman with classical features of AOSD developed persistent fever, severe bicytopenia associated with extreme hyperferritinemia, hyponatremia and abnormal liver function tow months after the initiation of adalimumab treatment. The diagnosis of MAS was made without histological proof. The patient was treated with methylprednisolone pulse therapy and her condition improved. During the disease course, extensive studies could not identify any viral infection or other known underlying etiology for the reactive MAS. The adalimumab was incriminated in this complication. Currently, the patient is in remission on tocilizumab and low-dose prednisolone.
Cefiderocol to manage chronic, multi-drug-resistant Burkholderia cepacia complex infection in a patient with cystic fibrosis: a case report
Authors: Clemency Nye, Jamie Duckers, Rishi Dhillon
Journal: Access Microbiol (2022)
Keywords: burkholderia cenocepacia, cefiderocol, cystic fibrosis, multi-drug resistance
MeSH terms: Case Reports

In cystic fibrosis (CF) patients, Gram-negative Burkholderia cepacia complex (Bcc) infections are associated with recurrent pulmonary exacerbations. Bcc organisms are innately resistant to many antibiotics, and infection with B. cenocepacia is a contraindication to lung transplantation. We report a CF patient with severe lung disease, colonized with Bcc, with a history of around nine exacerbations per year for over 10 years, for whom antibiotic regimens (including targeted and broad-spectrum antibiotics) had not cleared infection or extended the interval between exacerbations. After receiving a 2 week cefiderocol-containing regimen, the patient remained stable for more than 5 months without the need for additional antibiotics or hospital admissions for respiratory exacerbations.
Alveolar Echinococcosis in Children
Authors: Emilija Jonaitytė, Martynas Judickas, Eglė Tamulevičienė, Milda Šeškutė
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Alveolar echinococcosis (AE) is an infectious zoonotic disease that is caused by Echinococcus multilocularis. The disease is generally identified accidentally because of the long asymptomatic period, has a malignant behaviour, and mainly occurs in the liver. Usually it is diagnosed in adults and is very rare in pediatric patients. We report two cases of AE and 1 differential case between AE and cystic echinococcosis (CE) in children: two of them had lesions in the liver and one had rare extrahepatic presentation of a cyst in the spleen. All our patients received chemotherapy with albendazole because surgical treatment was not recommended. The children were followed-up from 10 to 30 months and no significant improvement was seen. In this report we discuss the difficulties we faced in the treatment and follow-up of these patients. We also review the main clinical manifestations, general diagnostic methods, and treatment options of AE according to the current literature.
A case series analysing patients with dental anxiety: a patient-centered model based on psychological profiling
Authors: Riccardo Tizzoni, Laura Veneroni, Alfonso D'Aloia, Marta Tizzoni, Carlo Alfredo Clerici
Journal: F1000Res (2019)
Keywords: analgesia, compliance, dental anxiety, patient-centered model, sedation
MeSH terms: Dental Anxiety / therapy, Hypnotics and Sedatives / administration & dosage, Patient Compliance, Patient-Centered Care, Anesthesia / methods, Humans, Pain, Psychological Distress, Hypnotics and Sedatives

Anxiety and distress can jeopardize dental care experience of patients and may affect the clinical result. Although a wide range of sedation and analgesia techniques are currently available to relieve distress and pain during dental procedures, operative models to choose the most effective sedation-analgesic strategies are still insufficient. This case series proposes a patient-centered model to optimize patients' cooperation during dental care delivery. We describe how to achieve correct anaesthesia by using the least sedative procedure, accounting for the dental procedure needed and patient's psychological profile. Five patients were considered as paradigmatic to show the balance between patients' subjective experiences and the clinical procedures: a patient with low stress, good compliance (case 1); a patient with moderate stress and reduction in compliance (case 2); anxious patient (case 3); a patient with acute anxiety and emotional distress (case 4); anguished patient (case 5). A multimodal treatment of emotional and behavioural condition and a patient-centered model approach contributed to achieve the best patient satisfaction in the five cases detailed here.
Chronic traumatic encephalopathy in contact sports: a systematic review of all reported pathological cases
Authors: Joseph C Maroon, Robert Winkelman, Jeffrey Bost, Austin Amos, Christina Mathyssek, Vincent Miele
Journal: PLoS One (2015)
MeSH terms: Brain Injuries / epidemiology, Sports, Research Support, Non-U.S. Gov't, Review, Systematic Review, Chronic Disease / epidemiology, Humans

Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease associated with head trauma. Although initially believed to affect only boxers, the at-risk population has expanded to encompass a much wider demographic, including American football players, hockey players, wrestlers, and military veterans. This expansion has garnered considerable media attention and public concern for the potential neurodegenerative effects of head trauma. The main aim of this systematic review is to give a complete overview of the common findings and risk factors for CTE as well as the status quo regarding the incidence and prevalence of CTE. This systematic review was performed using PubMed and MEDLINE and includes all neuropathologically confirmed cases of CTE in the medical literature to date, from the first published case in 1954 to August 1, 2013 (n = 153). The demographics, including the primary source of mTBI (mild Traumatic Brain Injury), age and cause of death, ApoE genotype, and history of substance abuse, when listed, were obtained from each case report. The demographics of American football players found to have CTE are also presented separately in order to highlight the most prevalent group of CTE cases reported in recent years. These 153 case reports of CTE represent the largest collection to date. We found that a history of mTBI was the only risk factor consistently associated with CTE. In addition, we found no relationships between CTE and age of death or abnormal ApoE allele. Suicide and the presence of premorbid dementia was not strongly associated with CTE. We conclude that the incidence of CTE remains unknown due to the lack of large, longitudinal studies. Furthermore, the neuropathological and clinical findings related to CTE overlap with many common neurodegenerative diseases. Our review reveals significant limitations of the current CTE case reporting and questions the widespread existence of CTE in contact sports.
Diagnosing rare intraductal biliary neoplasms - Intraductal papillary neoplasm of the bile duct: A case report with typical imaging findings
Authors: Saumya Pandey, Nitin Agarwal, Vidushi Gupta, Ashok Sharma, Anil Aggarwal, Sunita Gupta, Ram Krishan
Journal: SA J Radiol (2022)
Keywords: biliary dilatation, communicating, hyperenhancing, intraductal neoplasms, mucin production, papillary growth, solid-cystic
MeSH terms: Case Reports

Intraductal papillary neoplasm of the bile duct (IPN-B) is a rare preinvasive intraductal pathology of the biliary tract. It should be differentiated from other more common benign or malignant causes of biliary obstruction and dilatation such as calculi or cholangiocarcinoma because the management and prognosis of this condition differs significantly. This case report describes a case of IPN-B in a 45-year-old female patient who presented with non-specific complaints of chronic abdominal pain without jaundice for three months.
A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient
Authors: Siying Liang, Nan Jiang, Shuo Li, Xiaohu Jiang, Dongyi Yu
Journal: Mol Cytogenet (2017)
Keywords: choroideremia, deafness, mental retardation, snp arrays, xq21
MeSH terms: Case Reports

Background:
Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with Xq21 deletions has been reported.
Case presentation:
Here we describe a 17-year-old male with choroideremia, deafness, and mental retardation syndrome. Using SNP arrays, an 8.05 Mb deletion in Xq21 was identified inherited from the apparently healthy mother. The deleted region harbors 12 OMIM genes, of which POU3F4, CHM, and ZNF711 might have contributed to the patient's phenotype including hearing loss, poor vision, and intellectual disability. Moreover, the patient's mother exhibits a normal phenotype while carrying the same deletion, which is often observed in previous studies on female carriers in families with this syndrome.
Conclusions:
Our study confirms the causative effect between the Xq21 deletion in males and choroideremia, deafness and mental retardation.