Vitamin C deficiency can lead to pulmonary hypertension: a systematic review of case reports
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SUBMITTER: Hemila H
PROVIDER: S-EPMC10949735 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
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Project description:BackgroundPediatric pulmonary embolism is a rare yet potentially life-threatening condition, presenting significant diagnostic and therapeutic challenges owing to its nonspecific symptoms and diverse underlying risk factors. This systematic review aims to consolidate data from case series and case reports to provide a comprehensive overview of pediatric pulmonary embolism, focusing on clinical characteristics, diagnostic approaches, treatment strategies, and outcomes.MethodsThis systematic review was conducted in adherence to the Preferred Reporting Items for Systematic Reviews and Meta-analysis guidelines and the Cochrane Handbook for Systematic Reviews of Interventions, version 6.3. The study protocol was registered with PROSPERO (ID: CRD42024532471). We utilized the Covidence systematic review software for deduplication and screening of search results. The literature search was developed with a subject specialist and included Medical Subject Headings terms and free-text keywords such as "pulmonary embolism," "pediatric," and "case reports." Databases searched included PubMed, Scopus, Web of Science, and the Cochrane Library up to April 2024, limited to English-language publications. Reference lists of relevant articles were also reviewed.ResultsPulmonary embolism affected males and females with age ranging from 1 to 18 years. Common underlying conditions included malignancies (for example, Wilms tumor), chronic diseases (for example, nephrotic syndrome), and recent surgical interventions. Diagnostic practices primarily relied on computed tomography pulmonary angiography, supplemented by chest X-ray and ultrasound. Treatment typically involved anticoagulation therapy with unfractionated heparin and low-molecular-weight heparin, transitioning to oral anticoagulants for long-term management. Thrombolytic therapy was used in severe cases. Outcomes varied, with many patients recovering well, though complications such as recurrent embolism and pleural effusion were observed. Fatal cases underscored the critical need for early detection and prompt treatment.ConclusionThis systemic review underscores the rarity and complexity of pediatric pulmonary embolism, highlighting the necessity for increased clinical vigilance given its nonspecific presentation and diverse underlying risk factors. Accurate diagnosis, primarily via computed tomography pulmonary angiography, with the prompt initiation of anticoagulation therapy are essential for optimal outcomes. Despite favorable recovery rates for most patients, the potential for severe complications and fatalities reinforces the value of timely diagnosis and personalized management approaches. Further research is essential to refine diagnostic protocols, optimize treatment approaches, establish evidence-based guidelines, and improve long-term outcomes for children with pulmonary embolism.
| S-EPMC11866702 | biostudies-literature
Project description:BackgroundCardiac myxoma is the most common type of primary cardiac tumor, with the majority located in the atrial wall. The tumor is attached to valvular structures in a few cases, of which the pulmonary valve is the least affected. Pulmonary valve myxoma may have different clinical manifestations from the more common cardiac myxomas because of its vital position. A misdiagnosis of these types of cardiac myxoma may be detrimental to the care and well-being of patients. Therefore, this systematic review aims to define the clinical characteristics of pulmonary valve myxoma and how this differs from a more common cardiac myxoma.MethodsEmployed literature was obtained from PubMed, ScienceDirect, Scopus, Springer, and ProQuest without a publication year limit on August 23, 2022. The keyword was "pulmonary valve myxoma." Inclusion criteria were as follows: (1) case report or series, (2) available individual patient data, and (3) myxoma that is attached to pulmonary valve structures with no evidence of metastasis. Non-English language or nonhuman subject studies were excluded. Johanna Briggs Institute checklists were used for the risk of bias assessment. Data are presented descriptively.ResultsThis review included 9 case reports from 2237 articles. All cases show a low risk of bias. Pulmonary valve myxoma is dominated by males (5:4), and the patient's median age is 57 years with a bimodal distribution in pediatric and geriatric populations. The clinical manifestation of pulmonary valve myxoma is often unspecified or asymptomatic. However, systolic murmur in the pulmonary valve area is heard in 67% of cases. Echocardiography remains the diagnostic modality of choice in the majority of cases. Tumor attached to the pulmonary cusps or annulus and extended to adjacent tissues in all cases. Therefore, valve replacement or adjacent tissue reconstructions are required in 77% of cases. The recurrence and mortality are considerably high, with 33% and 22% cases, respectively.ConclusionsPulmonary valve myxoma is more common in males with a bimodal age distribution, and its outcomes seem worse than usual cardiac myxomas. Increasing awareness of its clinical symptoms, early diagnosis, and complete myxoma resection before the presence of congestive heart failure symptoms are important in achieving excellent outcomes. A firm embolization blockade is needed to prevent myxoma recurrence.
| S-EPMC10026419 | biostudies-literature
Project description:Abstract Saddle pulmonary embolism (SPE) is a rare type of pulmonary embolism that can lead to hemodynamic compromise causing sudden deaths. Due to a dearth of large prospective studies in this area, little is known regarding the epidemiology, and prognosis and factors affecting the latter for COVID-19-associated SPE. We aimed to describe COVID-19-associated SPE and quantify and compare mortality and factors affecting mortality among the cases. We included a total of 25 publications with a total of 35 cases. The average age was 45 ± 16.3 years with 11 females and 24 males. Dyspnoea (82.5%), orthopnoea (43.5%), and cough (43.5%) were the most common symptoms, and obstructive shock was present in five (21.7%) patients. The average reported oxygen (O2) saturation was 85.8% ± 11.9 mm Hg. Hypertension (26.1%), diabetes (21.7%), and deep vein thrombosis (21.7%) were the most commonly reported comorbidities. Right heart strain was recognized in seven (30%) patients on electroencephalogram (S1QIIITIII) and 12 (52.2%) patients on echocardiogram. Anticoagulation, thrombolysis, and percutaneous intervention were tried in 21 (91.3%), 13 (56.5%), and 6 (26.1%) cases, respectively. Despite the aggressive management, 2 of 25 (8.7%) patients died in our smaller case report cohort. We conclude that despite aggressive management modalities, the mortality of SPE remains high in COVID-19.
| S-EPMC10238810 | biostudies-literature
Project description:Regional odontodysplasia is a rare developmental disorder characterised by hypoplasia and hypomineralisation of enamel and dentin. Our systematic review aimed to organise the knowledge on localisation, symptomatology and treatment methods in patients with regional odontodysplasia based on case reports published in the databases PubMed, Scopus and Web of Science. Case reports were described in 28 different countries, considering 180 patients (including 91 females). Regional odontodysplasia occurs mainly in both deciduous and permanent dentition (66.1%). The affected teeth were observed more frequently in the maxilla (70.0%), especially on the left side (45.6%). The most common reported symptoms were ghost teeth, poorly developed buds, yellowish-brown colour of crowns and delayed eruption of permanent teeth in affected quadrants. The most popular treatment method was surgical treatment (78.6%) with subsequent prosthetic therapy (34.6%). Based on the review of cases, pathognomonic clinical and radiological signs can be found, however, it is difficult to reach a consensus on the choice of treatment method.
| S-EPMC8835375 | biostudies-literature
Project description:AimsMyocardial calcification is an unusual condition in which excess calcium is deposited in the myocardium. Herein, we report two cases of myocardial calcification from our clinical experience. Furthermore, we conduct a systematic review to examine the clinical course and associated pathologies of myocardial calcification.Methods and resultsThis systematic review was registered in PROSPERO (CRD42023463285). PubMed and Scopus were searched according to the following inclusion criteria: (i) case reports or case series describing patients with myocardial calcification; (ii) diagnosis of myocardial calcification by computed tomography (CT); (iii) adequate description of patients, including their chief complaint, medical history, evaluations, and treatments; and (iv) publication in English. Among the 75 patients, 24 had sepsis, 14 had myocarditis, and 37 had other pathologies. The mortality rate was 33% for patients with sepsis, 14% for patients with myocarditis, and 11% for patients with other pathologies. Follow-up CT findings beyond 2 years were reported in six patients, showing that the CT findings of myocardial calcification persisted but subsided over time. Autopsy was performed in seven patients, and extensive interstitial fibrosis and collection of inflammatory cells were observed in patients with myocarditis, sepsis, and ischaemic heart disease.ConclusionWhile various medical conditions can cause myocardial calcification, accompanying conditions commonly reported with myocardial calcification were sepsis and myocarditis. The CT findings of myocardial calcification tend to regress over time if the underlying disease can be treated.
| S-EPMC11367960 | biostudies-literature
Project description:Pervasive refusal syndrome (PRS) is a complex condition that affects young people leading to social withdrawal, inability or refusal to eat, drink, mobilise or speak. The affected individual regresses and is unable to self-care and quite characteristically will resist rehabilitation, worsen with praise or remain entirely passive. This systematic review was aimed at describing clinical features of PRS, current interventions and to summarise some of the nosological aspects of the condition. Without language restriction, an electronic search was conducted in Embase, PsychInfo, Medline, Cochrane library, and PubMed databases yielding 29 articles with a total of 79 cases. We performed a risk of assessment bias using an adapted Newcastle-Ottawa Scale and adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. 124 articles were identified, of which 29 were included and these yielded 79 cases. Seventy-six percent of the studies had a low rate of risk of assessment bias (good quality). Our results show that PRS overlaps with several conditions, mainly affects young females aged 7-15 years and has a recovery rate of 78% if diagnosed and treated early but the duration of inpatient treatment may last up to 9.44 months (8.82 SD). The patients had multiple inter-dependent risks. The major predisposing factors included vulnerable premorbid personality and pre-existing mental disorder. Precipitating factors were stressors such as infection and traumatic experiences. Enmeshed parent-child relationship served as a maintaining factor. The themes of treatment approach are essentially rehabilitative: (1) working collaboratively with patient and family, (2) having access to multidisciplinary team, and (3) peer/group supervision. This study has systematically evaluated a large sample of patients with PRS to ascertain its clinical features and the core elements of its treatment. Its key treatment approach is a multi-modal rehabilitative strategy that is compassionate, transparent and inclusive.
| S-EPMC7222039 | biostudies-literature
Project description:Pulmonary arterial hypertension (PAH) is a group of vascular diseases that produce right ventricular dysfunction, heart failure syndrome, and death. Although the majority of patients appear idiopathic, accumulated research work combined with current sequencing technology show that many gene variants could be an important component of the disease. However, current guidelines, clinical practices, and available gene panels focus the diagnosis of PAH on a relatively low number of genes and variants associated with the bone morphogenic proteins and transforming Growth Factor-β pathways, such as the BMPR2, ACVRL1, CAV1, ENG, and SMAD9.To provide an expanded view of the genes and variants associated with PAH, we performed a systematic literature review. Facilitated by a web tool, we classified, curated, and annotated most of the genes and PubMed abstracts related to PAH, in which many of the mutations and variants were not annotated in public databases such as ClinVar from NCBI. The gene list generated was compared with other available tests.Our results reveal that there is genetic evidence for at least 30 genes, of which 21 genes shown specific mutations. Most of the genes are not covered by current available genetic panels. Many of these variants were not annotated in the ClinVar database and a mapping of these mutations suggest that next generation sequencing is needed to cover all mutations found in PAH or related diseases. A pathway analysis of these genes indicated that, in addition to the BMP and TGFβ pathways, there was connections with the nitric oxide, prostaglandin, and calcium homeostasis signalling, which may be important components in PAH.Our systematic review proposes an expanded gene panel for more accurate characterization of the genetic incidence and risk in PAH. Their usage would increase the knowledge of PAH in terms of genetic counseling, early diagnosis, and potential prognosis of the disease.
| S-EPMC5541665 | biostudies-other
Project description:IntroductionVitamin B12 deficiency is primarily associated with pernicious anaemia, polyneuropathy, and spinal-cord disease, but publications on its association with hallucinations are on the rise.MethodsI carried out a systematic literature search on these hallucinations in PubMed, PsycINFO, and Google Scholar, up until July 1, 2023.ResultsThe search yielded 50 case studies published between 1960 and 2023. The hallucinations described therein are predominantly visual and/or auditory in nature, with 20% being specified as complex, compound, or panoramic. They are often described in the context of vitamin B12-related neuropsychiatric conditions such as dementia, delirium, epilepsy, psychotic disorder, schizoaffective disorder, bipolar disorder, depressive disorder, catatonia, or obsessive-compulsive disorder. In the context of such disorders, they tend to appear first and also often appear to be the first to disappear with cobalamin treatment. Within an average of 2 months, full amelioration was thus obtained in 75% of the cases and partial amelioration in the remaining 25%. Remarkably, a quarter of the cases involved therapy-resistant hallucinations that fully resolved under cobalamin monotherapy, while other neuropsychiatric manifestations of vitamin B12 deficiency disappeared in 60% of the treated cases. Only 32% of the cases involved comorbid pernicious anaemia. This suggests that two separate or diverging pathways exist for perceptual and haematological symptoms of vitamin B12 deficiency.ConclusionIn the light of the high prevalence rate of vitamin B12 deficiency in the general population, the findings here presented should be interpreted with great caution. Nonetheless, they offer cues for further research and experimental application in clinical practice. This may be especially relevant in light of the recent increase in the popularity of vegetarianism and the recreational use of nitrous oxide (laughing gas), which are both risk factors for vitamin B12 deficiency.
| S-EPMC11651228 | biostudies-literature
Project description:Background and Objectives: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia. The clinical presentation of BS is heterogeneous, with a wide variety of genetic variants. The aim of this systematic review was to examine the available literature and provide an overview of the case reports and case series on BS. Materials and Methods: Case reports/series published from April 2012 to April 2022 were searched through Pubmed, JSTOR, Cochrane, ScienceDirect, and DOAJ. Subsequently, the information was extracted in order to characterize the clinical presentation, laboratory results, treatment options, and follow-up of the patients with BS. Results: Overall, 118 patients, 48 case reports, and 9 case series (n = 70) were identified. Out of these, the majority of patients were male (n = 68). A total of 21 patients were born from consanguineous marriages. Most cases were reported from Asia (73.72%) and Europe (15.25%). In total, 100 BS patients displayed the genetic variants, with most of these being reported as Type III (n = 59), followed by Type II (n = 19), Type I (n = 14), Type IV (n = 7), and only 1 as Type V. The most common symptoms included polyuria, polydipsia, vomiting, and dehydration. Some of the commonly used treatments were indomethacin, potassium chloride supplements, and spironolactone. The length of the follow-up time varied from 1 month to 14 years. Conclusions: Our systematic review was able to summarize the clinical characteristics, presentation, and treatment plans of BS patients. The findings from this review can be effectively applied in the diagnosis and patient management of individuals with BS, rendering it a valuable resource for nephrologists in their routine clinical practice.
| S-EPMC10537044 | biostudies-literature
Project description:In this study, we report case studies of two infants diagnosed with Kawasaki disease with pulmonary nodules. The typical symptoms of Kawasaki disease include changes to the lips and oral cavity, including reddening of the lips and strawberry tongue, the diffuse injection of oral and pharyngeal mucosa, a rash (including redness at the site of the Bacille Calmette-Guerin inoculation), and changes to peripheral extremities, which in the initial stage include the reddening of palms and soles and edema, and in the convalescent stage include periungual desquamation and non-suppurative cervical lymphadenopathy. One of the patients had mild, transient bilateral conjunctival redness, and the other patient had a fever. However, chest imaging revealed multiple lung nodules, and echocardiography revealed coronary artery dilatation. Based on the symptoms, the laboratory indicators and echocardiography, diagnoses of incomplete Kawasaki disease were confirmed. The physicians provided treatments to the patients that significantly alleviated their conditions, including intravenous immunoglobulin (IVIG) and aspirin. The coronary arteries of the two infants returned to normal, and the lung nodules of the two infants disappeared. We conducted a literature search and identified publications in which nine children reported pulmonary nodules associated with Kawasaki disease. At present, lung damage remains a challenge in diagnosing and differential diagnosis of Kawasaki disease and incomplete Kawasaki disease.
| S-EPMC8349952 | biostudies-literature