OpenMed/multicare-articles huggingface dataset:
High dose intravenous vitamin c treatment in a patient with lung cancer: A case report
Authors: Michael J González, Miguel J Berdiel, Jorge R Miranda-Massari, Desireé López, Joshua L Rodríguez-López, Pedro A Adrover-López, Jorge Duconge
Journal: Clin Case Rep Rev (2016)
Keywords: ascorbic acid, lung cancer, pulmonary cancer, vitamin c

Lung cancer is one of the most common cancers in both men and women. According to Dr. Abram Hoffer, patients with a better nutritional plan and daily Vitamin C supplementation improved their life quality. In this case report we present the case of a 56-year-old Hispanic male patient diagnosed with lung cancer on 2012. After undergoing surgery and chemotherapy, he started a high dose intravenous Vitamin C protocol on December 2013. The treatment continued until June 2015, when the patient decided to stop the treatment. A maximum of 75 gr of Vitamin C in 1,000 cc lactated Ringer's was given three times a week in a period over a year and a half. Patient's CEA levels continued to be within normal levels while high doses of Vitamin C infusions were given. Many case reports suggest that patients with lung cancer that received high doses of intravenous Vitamin C can live up to 10 years. A level of Vitamin C in plasma above 400 mg/dL is toxic to tumor cells, this can be achieved with periodic Vitamin C infusions. Our case support that the usage of high doses of IV Vitamin C can be effective in the treatment of patients with cancer without secondary effects.
Cerebrotendinous Xanthomatosis: Report of Two Siblings With the Same Mutation but Variable Presentation
Authors: Nivedhan Mahadevan, Varshini Thiruvadi, Paranthakan C, Rekha A, Magesh A
Journal: Cureus (2023)
Keywords: cholestanol, ctx, cyp27a1, lipid metabolism, xanthoma
MeSH terms: Case Reports

Cerebrotendinous xanthomatosis (CTX), also known as CTX, is an extremely rare bile acid metabolic disorder caused by mutations in the cytochrome P450 family 27 subfamily A member 1 (CYP27A1) gene. This genetic disease is inherited in an autosomal recessive manner, and it affects the enzyme sterol 27-hydroxylase, which is involved in the bile acid metabolic process. It is distinguished by diarrhoea in infancy, early juvenile cataract, tendon xanthomas in adolescence, and progressive neuropsychiatric dysfunction in adulthood. So far, India has reported eight genetically confirmed cases. We present two cases of CTX among siblings in a family. The elder sibling was initially diagnosed, and after reviewing his family history and performing a thorough clinical examination, we discovered a similar manifestation in his younger sibling. Genetic testing on the siblings revealed similar mutations at exon 2 of the CYP27A1 gene. If a pathogenic mutation is discovered in a family member, prenatal and preimplantation genetic testing, as well as childhood screening, are the options. These screening strategies will prevent the onset of neuropsychiatric manifestations and disability.
A Case of Lung Cancer with Brain Metastasis following Late-Onset Bipolar Disorder
Authors: Shin-Heng Shen, Shwu-Hua Lee
Journal: Behav Neurol (2021)
MeSH terms: Antipsychotic Agents / therapeutic use, Bipolar Disorder, Brain Neoplasms, Lung Neoplasms / drug therapy, Case Reports, Aged, Humans, Male, Mood Disorders, Antipsychotic Agents

Objective:
To describe a case of lung cancer with brain metastasis in a patient who developed new late-onset bipolar disorder 2 years previously.
Background:
The typical onset age of bipolar disorder is approximately 20, and the first episode is usually a depressive episode. It is still not clear which age-specific factors contribute to the underlying risk.
Materials and methods:
A 65-year-old male patient presented with a new-onset manic episode characterized by labile mood, impulsivity, decreased need for sleep, and grandiosity. He was diagnosed with late-onset bipolar disorder after excluding other possible physiological conditions. He was hospitalized in the acute psychiatric ward, and a combination of mood stabilizers and antipsychotics was prescribed. His mental condition improved, and he remained stable for 2 years. However, he experienced abrupt cognitive decline for 2 months and was referred to the emergency room for physiological examination.
Results:
The patient was diagnosed with lung cancer with brain metastasis by brain magnetic resonance imaging and whole-body positron emission tomography.
Conclusion:
In geriatric patients, who are at high risk of multiple medical conditions, excluding secondary causes of bipolar disorder is important.
A Rapidly Fatal Case of Low-Dose Methotrexate Toxicity
Authors: Nasreen Shaikh, Muhammad Sardar, Rishi Raj, Punit Jariwala
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

An 82-year-old female presented with multiple oral ulcers and malena for 1 week. Her laboratory tests revealed pancytopenia and acute renal failure. She had history of rheumatoid arthritis for which she was taking 7.5 mg methotrexate weekly and stage 4 chronic kidney disease from diabetic nephropathy. During the hospital stay, she developed pneumonia and septic shock requiring norepinephrine and vasopressin. She underwent continuous venovenous hemodiafiltration. Leucovorin, filgrastim, and multiple packed red blood cell and platelet transfusions were given. She remained hypotensive and pancytopenic despite all interventions. She died on day 6 of hospital stay from acute hypoxic respiratory failure due to septic shock.
Case report: The CT features of pediatric retroperitoneal extrarenal Wilms tumor: a report of two cases and literature review
Authors: Ting Li, Haoru Wang, Xin Chen, Ling He
Journal: Front Pediatr (2023)
Keywords: case report, children, computerized tomography, extrarenal wilms tumor, literature review
MeSH terms: Case Reports

Retroperitoneal extrarenal Wilms tumor is a rare condition in children that can be easily misdiagnosed as other retroperitoneal malignancies unrelated to the renal origin. Computerized tomography scan plays a crucial role in diagnosing and distinguishing retroperitoneal malignancies. In this report, we present two cases of retroperitoneal extrarenal Wilms tumor in children who were admitted due to abdominal mass. Laboratory examination did not reveal any significant abnormality. However, a computerized tomography scan revealed a solid or cystic-solid mass in the retroperitoneum accompanied by a bone spur extending from the anterior edge of the vertebral body to the back of the mass, while the origin of the tumor remained unclear. By analyzing these two cases and reviewing previous studies on retroperitoneal extrarenal Wilms tumor in children, we summarized the clinical and imaging characteristics of this rare condition. We also found that the presence of a spinal deformity adjacent to the mass might indicate the possibility of a retroperitoneal extrarenal Wilms tumor.
Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene
Authors: Caiyuan Chen, Jin Han, Jiaxin Xue, Ru Li, Guilan Chen, Xin Yang, Jiajie Tang, Fucheng Li, Dongzhi Li
Journal: Front Genet (2023)
Keywords: chrnd gene, first trimester, lethal multiple pterygium syndrome, micrognathia, prenatal diagnosis
MeSH terms: Case Reports

Lethal multiple pterygium syndrome (LMPS) is a rare disease with genetic and phenotypic heterogeneity and is inherited in an autosomal recessive (AR) pattern. Here, we have presented clinically significant results describing two novel mutations of CHRND gene: NM_000751.2: c.1006C>T p.(Arg336Ter) and NM_000751.2:c.973_975delGTG p.(Val325del), and measurement of the facial angle for determining micrognathia by prenatal diagnosis in the first trimester of pregnancy for a Lethal multiple pterygium syndrome case. In conclusion, this report complements the spectrum of genetic variants and phenotype of Lethal multiple pterygium syndrome and provides reliable recommendation for the counseling of future pregnancies in families with the disease.
Right Sided Intracardiac Thrombosis during Veno-Arterial Extracorporeal Membrane Oxygenation: A Case Report and Literature Review
Authors: Anusha Ganapati Bhat, Armand Golchin, Deepak Kumar Pasupula, Jaime A Hernandez-Montfort
Journal: Case Rep Crit Care (2019)
MeSH terms: Case Reports

Veno-Arterial Extracorporeal Membrane Oxygenation is a common technology of the modern era used as a bridge in severe refractory cardiac and respiratory failure until definitive management is planned. However, early recognition and management of one of the most challenging complications, intracardiac thrombus, continue to remain a conundrum. The incidence of the clinical scenario is very rare. Therefore, due to the lack of literature, there are no guidelines for risk stratification, prevention, or management of intracardiac thrombus. We describe a case of massive pulmonary embolism, who developed a sudden right sided intra-cardiac thrombosis while being optimally anticoagulated on VA ECMO. We also review the literature to describe the pathophysiology, risk stratification, prevention, and management of this rare entity.
Case Report: Mucinous Adenocarcinoma Arising From Congenital Ejaculatory Duct Cyst
Authors: Hua Shen, Kai Liao, Weili Wu, Gongyu Li, Shijin Chen, Nan Nan, Hongbo Yu, Hongfei Wu
Journal: Pathol Oncol Res (2021)
Keywords: ejaculatory duct, ejaculatory duct adenocarcinoma, ejaculatory duct cyst, ejaculatory duct tumor, mucinous adenocarcinoma
MeSH terms: Adenocarcinoma, Mucinous / pathology, Cysts / pathology, Ejaculatory Ducts / pathology, Genital Neoplasms, Male / pathology, Case Reports, Adenocarcinoma, Mucinous / diagnosis, Aged, Genital Neoplasms, Male / diagnosis, Humans, Male

Herein we present a previously unreported rare case of mucinous adenocarcinoma arising from a congenital ejaculatory duct cyst. Radiographic and endoscopic examinations revealed the tumor occurred in a cyst running through the prostate. Initially, the immunohistochemical pathology results showed that it was a metastatic mucinous adenocarcinoma, but no other primary lesions were clinically evidenced. Based on the embryonic development process of the male urogenital tract, the malformation of the patient's ejaculatory duct, and the pathological examination of the resected specimen, we considered the tumor to be a primary mucinous adenocarcinoma which originating from the hypoplastic ejaculatory duct. The tumor may have developed from the foci of intestinal metaplasia from cloacal remnants during embryonic development.
Pregnancy Outcome in Cartilage-Hair Hypoplasia, a Rare Form of Dwarfism
Authors: Harshithaa Thavarajah, Anne Berndl
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Background. This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. Literature on pregnancy outcomes in patients with cartilage-hair hypoplasia is limited. Case. A 32-year-old patient with cartilage-hair hypoplasia presented at 12 weeks' gestation to the high-risk obstetrics clinic for care. Preterm labor resulted in cesarean delivery at 34 weeks' gestation with general anesthetic. Breastfeeding was stopped at 6 weeks due to neonatal complications. Conclusion. Pregnancy and delivery were uncomplicated. A multidisciplinary approach allowed for effective management during pregnancy and postnatal care. This is the first known documented case of prenatal care, delivery, and breastfeeding in a woman with this rare disorder.
Glass Ionomer Subgingival Matrix Technique to Restore a Tooth with Severe Root Resorption for Implant Site Development
Authors: Ahmad Y Imam, Raghad A Al-Dabbagh
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Here, we present the multidisciplinary, patient-specific management of a patient with severe external root resorption and bone loss in a maxillary anterior tooth. The tooth was provisionally noninvasively restored with glass ionomer subgingival matrix in preparation for forced orthodontic extrusion, papillary preservation, and implant placement. This approach enables clinicians to control infection within and around the resorbed tooth and then to use it as an anchor for slow forced tooth eruption to correct bone and mucogingival deformities. Aesthetic and functional outcomes were clinically and radiographically satisfactory. The advantages and disadvantages of this technique are discussed.
A Curious Case of Iron-Deficiency Anemia
Authors: Seth Shaffer, Mayur Brahmania, Hemant Shah
Journal: Can J Gastroenterol Hepatol (2016)
MeSH terms: Abdominal Pain / etiology, Anemia, Iron-Deficiency / etiology, Schistosomiasis mansoni / complications, Case Reports, Esophageal and Gastric Varices / diagnostic imaging, Humans, Male, Middle Aged

A 49-year-old Brazilian male presented to the emergency department with a five-day history of abdominal pain, dark stools, and syncope. Physical examination did not reveal any melena on digital rectal examination and there were no stigmata of chronic liver disease. Laboratory results showed hemoglobin of 47 g/L, MCV of 80 fL, and ferritin of 6 ng/mL. Liver enzymes and liver function tests were normal. Abdominal ultrasound showed a cirrhotic liver with splenomegaly and varices suggestive of portal hypertension. His past history was significant for cirrhosis based on a previous variceal bleed but a workup for chronic liver disease was negative and a liver biopsy did not show steatosis, fibrosis, or cirrhosis. A gastroscopy in this admission showed large esophageal varices without high-risk stigmata and no overt bleeding was seen. A colonoscopy was subsequently completed to the terminal ileum and was normal aside from a 5 mm sessile polyp in the descending colon.
Home Language Will Not Take Care of Itself: Vocabulary Knowledge in Trilingual Children in the United Kingdom
Authors: Karolina Mieszkowska, Magdalena Łuniewska, Joanna Kołak, Agnieszka Kacprzak, Zofia Wodniecka, Ewa Haman
Journal: Front Psychol (2017)
Keywords: home language, minority language, multilingualism in migrant context, trilingual children, trilingual language acquisition, vocabulary acquisition

Language input is crucial for language acquisition and especially for children's vocabulary size. Bilingual children receive reduced input in each of their languages, compared to monolinguals, and are reported to have smaller vocabularies, at least in one of their languages. Vocabulary acquisition in trilingual children has been largely understudied; only a few case studies have been published so far. Moreover, trilingual language acquisition in children has been rarely contrasted with language outcomes of bilingual and monolingual peers. We present a comparison of trilingual, bilingual, and monolingual children (total of 56 participants, aged 4;5-6;7, matched one-to-one for age, gender, and non-verbal IQ) in regard to their receptive and expressive vocabulary (measured by standardized tests), and relative frequency of input in each language (measured by parental report). The monolingual children were speakers of Polish or English, while the bilinguals and trilinguals were migrant children living in the United Kingdom, speaking English as a majority language and Polish as a home language. The trilinguals had another (third) language at home. For the majority language, English, no differences were found across the three groups, either in the receptive or productive vocabulary. The groups differed, however, in their performance in Polish, the home language. The trilinguals had lower receptive vocabulary than the monolinguals, and lower productive vocabulary compared to the monolinguals. The trilinguals showed similar lexical knowledge to the bilinguals. The bilinguals demonstrated lower scores than the monolinguals, but only in productive vocabulary. The data on reported language input show that input in English in bilingual and trilingual groups is similar, but the bilinguals outscore the trilinguals in relative frequency of Polish input. Overall, the results suggest that in the majority language, multilingual children may develop lexical skills similar to those of their monolingual peers. However, their minority language is weaker: the trilinguals scored lower than the Polish monolinguals on both receptive and expressive vocabulary tests, and the bilinguals showed reduced expressive knowledge but leveled out with the Polish monolinguals on receptive vocabulary. The results should encourage parents of migrant children to support home language(s), if the languages are to be retained in a longer perspective.
Identifying Potential Child Abuse through Oral Examination
Authors: Jillian N Printz, Aaron Baker, Michele Carr
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Limited reports of oropharyngeal trauma exist in the literature even though this type of injury is extremely common in pediatric populations. There are no widely agreed upon diagnostic and management tools for such injuries in abuse cases, emphasizing the importance of reporting rare cases of orofacial trauma. This case report of a soft palate laceration demonstrates an instance of initially unrecognized potential child abuse. We aim to clarify understanding of such injuries. Furthermore, the report highlights the need for recognition of oral signs of child abuse in order to promote early detection, reporting, and appropriate management.
Case report of severe psychiatric sequelae in a 16-year-old female following resection of a purely dopamine-secreting ganglioneuroma
Authors: Louis Chai, Sean Ciullo, Rajeev Prasad
Journal: Int J Surg Case Rep (2019)
Keywords: case report, ganglioneuroma, hormonally active tumors, neuroblastic tumors

Background:
Ganglioneuromas (GN) are rare, benign tumors derived from neural crest cells. They are in the same family of neuroblastic tumors that includes the intermediate ganglioneuroblastoma (GNB) and the malignant neuroblastoma (NB), each of which carries a different prognosis based on tumor histopathology. GNs are generally asymptomatic and usually found incidentally when the tumor becomes palpable or has grown large enough to exert mass effect on adjacent structures. Unlike their malignant counterparts, GNs are rarely hormonally active and usually do not exhibit systemic metabolic activity. We present a case of an adolescent female with a pelvic tumor that was found to be a purely dopamine-secreting GN. Resection resulted in sudden dopamine withdrawal and unexpected severe emotional lability post-operatively.
Case:
A 16-year-old female presented with a history of increasingly irregular menses over the past year and was found to have an 8-centimeter pelvic tumor. Subsequent work up revealed the mass to be solely dopamine secreting. The tumor was excised without preoperative hormonal blockade. Post-operatively, the patient developed severe emotional lability and symptoms of depression, likely related to the acute withdrawal of circulating dopamine.
Conclusion:
Ganglioneuromas are rarely metabolically active. However, a preoperative endocrine workup should be done to rule out other more commonly hormonally active tumors such as neuroblastomas, pheochromocytomas, and paragangliomas. If isolated dopamine secretion is found, hormonal blockade is not required preoperatively and operative manipulation and removal should be considered safe. However, one should anticipate potential emotional and psychiatric issues post-operatively due to the acute withdrawal of circulating dopamine.
Case Report: Syphilitic Hepatitis-A Rare and Underrecognized Etiology of Liver Disease With Potential for Misdiagnosis
Authors: Hiba A Al Dallal, Siddharth Narayanan, Hanah F Alley, Michael J Eiswerth, Forest W Arnold, Brock A Martin, Alaleh E Shandiz
Journal: Front Med (Lausanne) (2021)
Keywords: drug abuse, hepatitis, infection, liver enzymes, seizure, syphilis
MeSH terms: Case Reports

Syphilitic hepatitis (SH) in adults is a rare condition that can be easily misdiagnosed. Clinical and histopathologic manifestations of SH can mimic other infectious and non-infectious conditions, and the diagnosis should be considered in all at-risk patients with abnormal liver function tests. We present an unusual case of SH presenting with seizures and multiple liver lesions. This case report, in line with other newly published reports, promotes awareness of SH as a rare manifestation of treponemal infection and highlights the importance of including SH in the differential diagnosis for patients at risk for sexually transmitted infections and presenting with liver enzyme abnormalities. From a hospital quality control and socioeconomic perspective, our case adds to the growing body of evidence that demonstrates an increasing incidence of patients suffering from venereal diseases and injection drug use disorders, and the burden these conditions place on the healthcare system. Recognition of the clinicopathologic features of SH is required to prevent missed diagnosis and to foster systematic crosstalk between healthcare staff and public health personnel managing this problem.
Presumed sturge weber syndrome in a haitian boy: a case of delayed diagnosis
Authors: Gian Paolo Giuliari, Ama Sadaka, Maria Angelica Cortez, Adalgisa Corona
Journal: Case Rep Ophthalmol Med (2012)
MeSH terms: Case Reports

Purpose. To report an untypical presentation of a presumed Sturge-Weber Syndrome (SWS), and to highlight the indispensable value of thorough clinical examination as primary means for proper diagnosis and management. Methods. Chart review. Results. A 7 year-old boy, with a long history of ocular symptoms and an unspecified ocular surgery, presents with a painful blind left eye. Based on clinical examination, the suspicion of SWS was raised. The presentation was not typical in the sense that no evident port-wine stain was observed on the face. However, facial asymmetry and gum discoloration were guiding clinical clues to pursue further investigations. Unfortunately, due to poor treatment response, the patient underwent enucleation. Tissue pathology revealed diffuse choroidal hemangiomas, consistent with the diagnosis of SWS. Conclusion. SWS presents with hamartomatous malformations and venous dilation affecting the skin, central nervous system and eye. The ocular involvement may vary, with the most common complications being glaucoma, buphthalmos and diffuse choroidal hemangiomas. This case report helps remind physicians of the importance of a thorough clinical examination, and highlights the ophthalmologists' responsibility of examining beyond the eye.