OpenMed/multicare-articles huggingface dataset:
Case report: metoclopramide induced acute dystonic reaction in adolescent CYP2D6 poor metabolizers
Authors: Franz-Martin Fink, Marta Bognar, Petra Hengl, Markus Paulmichl, Charity Nofziger
Journal: Front Pharmacol (2023)
Keywords: cyp2d6, acute dystonia, metoclopramide, metoclopramide-induced acute dystonic reactions, pharmacogenetics, pharmacogenomics, poor metabolizer
MeSH terms: Case Reports

Metoclopramide is indicated for the management of gastroesophageal reflux, gastric stasis, nausea, and vomiting. Metoclopramide-induced acute dystonic reactions (MIADRs), along with repetitive involuntary protrusion of the tongue, are well-known phenomena in children and young adults that may appear after the first dose. The drug is primarily metabolized via oxidation by the cytochrome P450 enzyme CYP2D6 and to a lesser extent by CYP3A4 and CYP1A2. A recommendation to decrease metoclopramide dosing in patients with severely limited to no CYP2D6 activity (i.e., poor metabolizers, PMs) is included in the drug label. It is important to note, however, that a requirement or recommendation for pre-emptive testing for CYP2D6 metabolizer status is not included in the drug label. We present two cases of acute dystonia in two non-consanguineous male adolescents: one following metoclopramide and cimetidine administration in a 14-year-old to treat gastroesophageal reflux, and another following metoclopramide and pantoprazole administration in a 17-year-old with acute gastroenteritis. A retrospective pharmacogenetic analysis revealed both patients as CYP2D6 PMs.
Scaling the Moments That Matter® early childhood development model: how communities' monitoring for change contributes to sustainable impact
Authors: Dawn E Murdock, Kelvin Munsongo, George Nyamor
Journal: Front Public Health (2023)
Keywords: community-led monitoring, early childhood development, faith-based approach, scalable models, civil society-government coordination, community ownership, measurement for change, parenting intervention
MeSH terms: Health Promotion, Parenting, Case Reports, Research Support, Non-U.S. Gov't, Child, Child, Preschool, Humans, Kenya, Zambia

This paper presents a community case study of how the Moments That Matter® (MTM) Program community-led monitoring, evaluation and learning (MEL) system contributes to a scalable model with quality and sustainable impact. With a faith-based approach, MTM is an early childhood development program partnership of Episcopal Relief & Development which is rooted in parenting empowerment and community ownership. MTM empowers Primary Caregivers, strengthening nurturing care of some 60,000 children aged under three since 2012. Launched in Zambia, MTM has expanded to five other countries. Based on MTM Zambia and Kenya, this paper examines how an innovative, community-led MEL system functions to drive sustainable impacts and scaling. Measurement for change has been critical to the community MEL system. MTM is people-centered with community leaders, early childhood development service providers, volunteers and Primary Caregivers all setting their specific goals. The program is inclusive with all stakeholders engaged in monitoring and making adjustments; interactive with relationship-based social and behavior change strategies; informative with continuous data gathering used for decisions and problem-solving; and dynamic with built-in flexibility and an adaptation process. The community-led MEL propels scaling up through two channels: (1) New communities for MTM program start up: As MTM communities graduate to community ownership, program staff and budget are then invested in new marginalized and underserved rural areas. (2) Deepening reach within MTM communities: Over the first two cycles, communities transition to community ownership, then continue independently of staff and budget. They identify a new set of vulnerable Primary Caregivers of children under three and carry out the caregiver parenting support and learning activities. The success of the program's community-led MEL in achieving sustainable change and fueling the program scale up hinges on three factors: (1) Initiating the community-led MEL dimension at project start, gradually increasing the community role while reducing the staff role. (2) Provision of Community MEL capacity-building and effective, user-friendly tools to be tailored locally. (3) Three program stakeholder types leading MEL and collaborating closely with each other: ECD Committees with MTM-trained faith leaders, ECD Promoters, and Primary Caregivers of children under three.
Treatment Challenges of a Primary Vertebral Artery Aneurysm Causing Recurrent Ischemic Strokes
Authors: Davide Strambo, Luca Peruzzotti-Jametti, Aurora Semerano, Giovanna Fanelli, Franco Simionato, Roberto Chiesa, Enrico Rinaldi, Vittorio Martinelli, Giancarlo Comi, Marco Bacigaluppi, Maria Sessa
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Background. Extracranial vertebral artery aneurysms are a rare cause of embolic stroke; surgical and endovascular therapy options are debated and long-term complication may occur. Case Report. A 53-year-old man affected by neurofibromatosis type 1 (NF1) came to our attention for recurrent vertebrobasilar embolic strokes, caused by a primary giant, partially thrombosed, fusiform aneurysm of the left extracranial vertebral artery. The aneurysm was treated by endovascular approach through deposition of Guglielmi Detachable Coils in the proximal segment of the left vertebral artery. Six years later the patient presented stroke recurrence. Cerebral angiography and Color Doppler Ultrasound well characterized the unique hemodynamic condition developed over the years responsible for the new embolic event: the aneurysm had been revascularized from its distal portion by reverse blood flow coming from the patent vertebrobasilar axis. A biphasic Doppler signal in the left vertebral artery revealed a peculiar behavior of the blood flow, alternately directed to the aneurysm and backwards to the basilar artery. Surgical ligation of the distal left vertebral artery and excision of the aneurysm were thus performed. Conclusion. This is the first described case of NF1-associated extracranial vertebral artery aneurysm presenting with recurrent embolic stroke. Complete exclusion of the aneurysm from the blood circulation is advisable to achieve full resolution of the embolic source.
Sudden Odynophagia and Globus-A Unique Presentation of a Nonsecreting Parathyroid Adenoma: A Case Report and Literature Review
Authors: Luxman Srikantha, Esmael H Amjad, Rafic Beydoun
Journal: Case Rep Otolaryngol (2020)
MeSH terms: Case Reports

Parathyroid adenomas are most commonly diagnosed when symptoms consistent with primary hyperparathyroidism arise. However, certain parathyroid glands may enlarge without such symptoms. Described here is a case in which a patient presented with acute signs of unilateral cervical point tenderness, dysphagia, and odynophagia. Calcium and parathyroid hormone levels tested within normal range. Imaging revealed an enlarged right-sided mass, with compression of the trachea-esophageal groove and potentially the right recurrent laryngeal nerve. Surgical excision was performed, and final pathology revealed an infarcted parathyroid adenoma. Clinical symptoms promptly resolved thereafter. Current NIH criteria for parathyroidectomy include various symptoms of hyperparathyroidism but do not include the above findings. Nonsecreting parathyroid adenomas rarely cause laryngeal symptoms, as this has only been documented once before.
Management of an Infected Vesicourachal Diverticulum in a 42-Year-Old Woman
Authors: Maria Erodotou, Maria Isaia, Georgios Fragkiadakis, Theocharis Tontikidis, Kosmas Tyriakidis, Spyridon Palaiologos, Nikolaos Nikolaou
Journal: Case Rep Urol (2020)
MeSH terms: Case Reports

Urachal remnant anomalies are uncommon in adults and can be confused with a variety of clinical conditions when symptomatic or infected. Vesicourachal diverticulum is the rarest type, accounting for approximately 3% to 5% of congenital urachal anomalies. We report the case of a 42-year-old female patient, who presented to the emergency department with lower abdominal pain and a palpable abdominal mass. An infected vesicourachal diverticulum was diagnosed after imaging studies and was initially treated with intravenous antibiotic therapy and drainage of the urachal diverticulum to the urinary bladder through a JJ stent. Finally, the patient underwent open surgical excision of the urachal remnant. The postoperative course was uneventful, and the histopathological examination confirmed the diagnosis of vesicourachal diverticulum. We recommend drainage of an infected vesicourachal diverticulum through the bladder by JJ stent placement inside its lumen during cystoscopy, as an alternative to percutaneous drainage reported in the literature.
Case Report: Laryngospasm as Initial Manifestation of Amyotrophic Lateral Sclerosis in a Long-Survival Patient With Heterozygous p.D90A - SOD1 Mutation
Authors: Giuliana Capece, Mauro Ceroni, Enrico Alfonsi, Ilaria Palmieri, Cristina Cereda, Luca Diamanti
Journal: Front Neurol (2021)
Keywords: amyotrophic lateral sclerosis, sod1, case report, laryngospasm, pd90a
MeSH terms: Case Reports

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Although its etiology is still unknown, many genes have been found to be implicated in ALS pathogenesis. The Cu/Zn superoxide dismutase (SOD1) gene was the first to be identified. Currently, more than 230 mutations in the SOD1 gene have been reported. p.D90A (p. Asp90Ala) is the most common SOD1 mutation worldwide. It shows both autosomal and recessive inheritance in different populations. To date, five Italian patients with the heterozygous p.D90A mutation have been reported. None of them complained of laryngological symptoms as the initial manifestation of ALS, although they had atypical clinical features. We describe a long-survival patient carrying heterozygous p.D90A mutation who presented with severe laryngospasm due to bilateral vocal cord paralysis. We suggest that genetic analysis may help to diagnose ALS with insidious onset like hoarseness, laryngospasm, and other type of voice disturbances.
An Interesting Case and Literature Review of a Coronary Stent Fracture in a Current Generation Platinum Chromium Everolimus-Eluting Stent
Authors: Sammy San Myint Aung, Htun Latt, Kyaw Kyaw, Chanwit Roongsritong
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Coronary interventions are the mainstay of treatment for stenotic coronary vascular lesions. New stent designs are constantly being evaluated to improve stent performances and clinical outcomes. Coronary stent fracture is uncommon; however, it is associated with potential major consequences including acute coronary syndrome and the need for repeated target vessel revascularization due to in-stent restenosis or stent thrombosis. We report a case of a 66-year-old man with an extensive cardiac disease history, who presented with intractable angina and was found to have a fracture of a current generation, platinum chromium everolimus-eluting stent (Synergy, Boston Scientific Inc.).
Hypertension Accompanied by Hyperaldosteronism, Hyperkalemia, and Hyperchloremic Acidosis: A Case Report and Literature Review
Authors: Yunyun Yang, Yang Ou, Yan Ren, Haoming Tian, Tao Chen
Journal: Case Rep Endocrinol (2020)
MeSH terms: Case Reports

This study reported on a 24-year-old woman who complained of a paroxysmal headache for six months and elevated blood pressure for four months. Laboratory examination revealed increased serum potassium and chloride levels, metabolic acidosis, suppressed renin activity, and increased plasma aldosterone concentration. Whole-exome sequencing revealed a heterozygous mutation in exon 11 of the KLHL3 gene: c.1298G > A. After treatment with low-dose hydrochlorothiazide, her clinical problems were controlled. This patient is the first case of Gordon syndrome (GS) within the Chinese population caused by a heterozygous KLHL3 mutation. A systematic review of the published literature identified 27 patients with GS caused by a KLHL3 mutation. These patients had a mean age of 28.2 ± 22.0 years; 74.1% presented with hypertension, 76.9% with hyperkalemia, and 59.1% with metabolic acidosis. The patients also had varying levels of plasma renin activity and plasma aldosterone concentrations.
The Health Literacy of Hong Kong Chinese Parents with Preschool Children in Seasonal Influenza Prevention: A Multiple Case Study at Household Level
Authors: Winsome Lam, Angela Dawson, Cathrine Fowler
Journal: PLoS One (2015)
MeSH terms: Health Literacy, Influenza, Human / prevention & control, Parents, Adult, Child, Preschool, Family Characteristics, Female, Hong Kong, Humans, Male, Middle Aged, Seasons, Surveys and Questionnaires

Background:
Health literacy influences individual and family health behaviour, health services use, and ultimately health outcomes and health care costs. In Hong Kong, people are at risk of seasonal influenza infection twice a year for three-month periods. Seasonal influenza is significantly associated with an increased number of hospitalized children. There is no research that provides an understanding of parents' health knowledge and their access to health information concerning seasonal influenza, nor their capacity to effectively manage influenza episodes in household. Such knowledge provides valuable insight into enhancing parents' health literacy to effectively communicate health messages to their children and support healthy behaviour development through role modelling.
Methods:
A multiple case study was employed to gain a multifaceted understanding of parents' health literacy regarding seasonal influenza prevention. Purposive intensity sampling was adopted to recruit twenty Hong Kong Chinese parents with a healthy three-to-five year old preschool child from three kindergartens. A content analysis was employed to categorize, tabulate and combine data to address the propositions of the study. Comprehensive comparisons were made across cases to reveal the commonalities and differences.
Results:
Four major themes were identified: inadequate parents' knowledge and reported skills and practices related to seasonal influenza prevention; parental knowledge seeking and exchange practices through social connection; parents' approaches to health information and limited enabling environments including shortage of health resources and uneven resource allocation for health promotion.
Conclusions:
The findings recommend that community health professionals can play a critical role in increasing parents' functional, interactive and critical health literacy; important elements when planning and implementing seasonal influenza health promotion.
Primary Ewing Sarcoma of the Thyroid-Eight Cases in a Decade: A Case Report and Literature Review
Authors: Paweł Kabata, Sonia Kaniuka-Jakubowska, Wanda Kabata, Joanna Lakomy, Wojciech Biernat, Krzysztof Sworczak, Janusz Jaśkiewicz, Maciej Świerblewski
Journal: Front Endocrinol (Lausanne) (2017)
Keywords: ewing sarcoma, ewing’s sarcoma of the thyroid, extraosseus ewing sarcoma, thyroid ewing sarcoma, thyroid sarcoma
MeSH terms: Case Reports

Sarcomas represent less than 1% of all malignant tumors found in the thyroid. Of these, primary extraosseoussarcoma has been reported only a few times in the past decade. We present the case of a 34-year-old male who had a fast-growing hard mass in the lower left neck. FNA was inconclusive. Core needle biopsy revealed the diagnosis of an Ewing sarcoma/primitive neuroectodermal tumor. Mutation of EWSR1 was confirmed using the FISH method. Following treatment by neoadjuvant chemotherapy, we observed clinical, radiological, and finally histopathological remission. This was followed by a left-sided isthmolobectomy with unilateral cervical lymph node dissection by lateral lymphadenectomy, which revealed no residual disease. Posttreatment radiotherapy was administered but discontinued upon the patient's request. After 18 months of observation, the patient had no recurrence or metastasis and required l-thyroxine supplementation. We discuss our case using a comparative literature review to the few other known case reports.
Case Report: A digital workflow in the treatment of bruxism in a young patient
Authors: Dobromira Shopova, Krasimir Mladenov
Journal: F1000Res (2021)
Keywords: ceramillmind, exocad, tmj disorders, bruxism, digital technologies, splint
MeSH terms: Bruxism / therapy, Case Reports, Humans, Polymethyl Methacrylate, Workflow, Polymethyl Methacrylate

Bruxism is increasingly common in today's stressful world and affects mainly young patients. It is a combined disease that involves dentition and its supporting structures, muscles, ligaments and the temporomandibular joint (TMJ). Here we present a complete combined analog and digital clinical protocol in a patient with parafunction. A young patient sought help due to impaired aesthetics, as a result of abraded tooth surfaces and severe symptoms of TMJ. We implemented a therapeutic protocol of six stages: deprogramming of the muscles and determination of treatment position and digital optimization; realization of the morphological plan for the upper dentition; non-invasive repositioning of the lower jaw by splint therapy; splint placement and follow-up; morphological planning of the lower dentition and replacement of the splint with fixed prosthesis with follow-up; and completion of the case with ceramic restorations. The digitally modeled temporary constructions for the upper jaw were made of PMMA and placed in the patient's mouth together with the splint on the lower jaw, made of Ceramill Splintec. After an adaptation period, all restorations were replaced by permanent zirconia. We achieved restoration of the defects of the dental arches and hard dental tissues and recovery to normal height of the lower third of the face (vertical dimension occlusion), fixed a stable and balanced position of the lower jaw, and repaired the normal physiological position of the TMJ for the patient. Аfter a multi-stage treatment we received a result satisfying the patient, the dentist and the dental technician. Aesthetics and function were restored, and clinical symptoms were removed from the TMJ.
Prostaglandin-induced cystoid macular edema following routine cataract extraction
Authors: Negin Agange, Sameh Mosaed
Journal: J Ophthalmol (2010)
MeSH terms: Case Reports

To our knowledge, we are reporting the first case of a 59-year-old man who developed recurrent CME with three separate trials of three different prostaglandin class drugs following uncomplicated phacoemulsification with intraocular lens implantation. Despite multiple reports of individual prostaglandin (PG) analogues being suggested as the cause of CME, there are no recommendations regarding withholding these medications in the perioperative period. Our patient first developed CME OD 4-months post uncomplicated cataract extraction. XALATAN (Latanoprost) had been restarted after surgery and discontinued at onset of CME. While off XALATAN (Latanoprost), the patient's CME resolved, but his IOP rose. The patient was started on LUMIGAN (Bimatoprost) to control the IOP, but within weeks his CME recurred. The patient's CME was again treated and his IOP remained acceptable, but then progressively increased. TRAVATAN (Travoprost) was attempted, but he presented with a third round of CME. Definitive conclusions about causal relationships cannot be made without well-designed, prospective clinical trials addressing this issue.
Synchronous Malignant Gastrointestinal Neuroectodermal Tumor and SMARCA4-Deficient Undifferentiated Carcinoma With Independent Origins in the Small Intestine: A Case Report
Authors: Cuimin Chen, Weihua Yin, Xingen Wang, Ping Li, Yaoli Chen, Xianglan Jin, Ping Yang, Huanwen Wu
Journal: Front Oncol (2021)
Keywords: ewsr1, smarca4-deficient undifferentiated carcinoma, case report, gastrointestinal neuroectodermal tumor, small intestine
MeSH terms: Case Reports

Background:
Malignant gastrointestinal neuroectodermal tumor (GNET) is a rare malignant mesenchymal neoplasm that commonly arises in the small bowel, stomach or colon. Meanwhile, SMARCA4-deficient undifferentiated carcinoma is a rarely reported entity with highly aggressive behavior that may involve the ovary, lung, gastrointestinal (GI) tract, endometrium and other organs. To our knowledge, we describe for the first time, an extremely rare case of synchronous GNET and SMARCA4-deficient undifferentiated carcinoma with independent origins in the small intestine.
Case presentation:
A 46-year-old woman presented with multiple small intestine masses and underwent surgical resection. Two distinct entities, GNET and SMARCA4-deficient undifferentiated carcinoma, were identified. GNET was composed of epithelioid and spindle cells with clear or eosinophilic cytoplasm arranged in sheets, nest, papillary, fascicular, palisade, rosette like or pseudoalveolar pattern. The neoplastic cells were positive for S-100 and SOX-10. Ewing sarcoma breakpoint region 1 gene (EWSR1) rearrangement was confirmed by fluorescence in situ hybridization (FISH), and EWSR1-CREB1 fusion was revealed by next-generation sequencing (NGS). SMARCA4-deficient undifferentiated carcinoma was composed mainly of poorly adhesive rhabdoid cells with eosinophilic cytoplasm arranged in a diffuse pattern. Multifocal necrosis, brisk mitotic figures as well as multinucleated tumor cells were observed. The neoplastic cells diffusely expressed pancytokeratin and vimentin, and was negative for SMARCA4(BRG1). Frame shift mutation of SMARCA4 was detected by NGS.
Conclusions:
This is the first report that GNET and SMARCA4-deficient undifferentiated carcinoma occurred simultaneously in the small intestine, with the latter showing multiple involvement of the jejunum and ileum. The potential mechanism underlying co-existence of these two rare malignancies is unknown and need further investigations and concern.