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3.
Cureus ; 15(9): e46279, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37908952

RESUMO

Cri-du-chat syndrome (CdCS) is a rare genetic disorder in which the short arm of chromosome 5 is deleted. This report aims to highlight a rare association with the syndrome. We present a preterm male delivered at 35 weeks gestation with an antenatal diagnosis of meningomyelocele. The patient's clinical examination revealed ruptured lumbosacral meningomyelocele, lower limb hypotonia, and hyporeflexia. The patient also displayed dysmorphic features, including microcephaly, a rounded face, low-set ears, and club feet. In addition, he is noted to have a high-pitched cry. Diagnosis of Chiari tonsil hernia type II was made by magnetic resonance imaging, and whole exome sequencing has confirmed CdCS. The spina bifida was surgically corrected, and the patient has since been cared for by a multidisciplinary team. The patient's short-term follow-up revealed a significant developmental delay. Few cases of CdCS associated with meningomyelocele have been reported. More evidence is needed to support a relevant association between CdCS and meningomyelocele.

4.
Biomedicines ; 11(7)2023 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-37509470

RESUMO

Monkeypox virus has remained the most virulent poxvirus since the elimination of smallpox approximately 41 years ago, with distribution mostly in Central and West Africa. Monkeypox (Mpox) in humans is a zoonotically transferred disease that results in a smallpox-like disease. It was first diagnosed in 1970 in the Democratic Republic of the Congo (DRC), and the disease has spread over West and Central Africa. The purpose of this review was to give an up-to-date, thorough, and timely overview on the genomic diversity and evolution of a re-emerging infectious disease. The genetic profile of Mpox may also be helpful in targeting new therapeutic options based on genes, mutations, and phylogeny. Mpox has become a major threat to global health security, necessitating a quick response by virologists, veterinarians, public health professionals, doctors, and researchers to create high-efficiency diagnostic tests, vaccinations, antivirals, and other infection control techniques. The emergence of epidemics outside of Africa emphasizes the disease's global significance. Increased monitoring and identification of Mpox cases are critical tools for obtaining a better knowledge of the ever-changing epidemiology of this disease.

5.
Cureus ; 15(12): e51385, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38292950

RESUMO

Background Antimicrobial resistance (AMR) has been designated a public health crisis by the World Health Organization. AMR can lead to escalated healthcare costs, higher mortality rates, increased morbidity, and more frequent hospitalizations. This study aimed to retrospectively evaluate the appropriateness of Tazocin prescription for community-acquired pneumonia (CAP). Methodology We conducted a retrospective analysis of patients aged ≥18 years who were admitted with a diagnosis of CAP and administered intravenous Tazocin between November 2021 and October 2022. The primary objective was to assess the appropriateness of Tazocin prescriptions in patients with CAP. Results A total of 39 patients with CAP were included, with a mean age of 61 ± 17.36 years. Overall, 24 (61%) patients were male. The rate of inappropriate prescriptions of Tazocin was 66.6%. The incidence of inappropriate Tazocin prescription varied significantly among different medical specialties, with the highest rate observed in the oncology-palliative specialty (90%; p = 0.033). Conclusions Our study affirms the inclination of physicians to prescribe Tazocin for CAP without justifiable indications and highlights the unwarranted use of Tazocin for CAP across various medical specialties. This is evidenced by the notably high rate of inappropriate empirical prescriptions.

6.
Cureus ; 14(11): e31494, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36532901

RESUMO

Background Foreign body ingestion is a prevalent issue among children and presents considerable morbidity and mortality rates. Due to children's increased accessibility to electronic toys and equipment, foreign body ingestion has become a common reason for presenting to pediatric emergency departments worldwide. In this context, this research aims to determine the prevalence of foreign body ingestion among children in AlAhsa, Saudi Arabia. Methodology This observational retrospective descriptive study was conducted at Maternity and Children Hospital, AlAhsa, Saudi Arabia, from 2017 to 2021. The study included children (less than 14 years old) who presented to the emergency department with a history of foreign body ingestion. The biographical data, clinical presentation, type of foreign body, and X-ray findings were documented. Results A total of 91 cases of foreign body ingestion or aspiration in children under 14 years of age were included. Approximately half of the patients were under the age of three, and 62.2% of them were male, while 37.8% were female. The clinical presentation revealed that only 24% were symptomatic. Coins were the most commonly ingested foreign bodies (28.9%), followed by metallic objects (20%), and batteries were the least frequently ingested foreign bodies, recorded in eight cases. Conclusion Early detection and treatment of foreign body ingestion is crucial to prevent consequences. In this study, the most frequent foreign bodies detected were coins among children up to three years old. Raising parents' awareness about the prevention of foreign body ingestion is an important step toward reducing its incidence.

7.
Genes (Basel) ; 13(12)2022 12 13.
Artigo em Inglês | MEDLINE | ID: mdl-36553622

RESUMO

The novel coronavirus-19 (SARS-CoV-2), has infected numerous individuals worldwide, resulting in millions of fatalities. The pandemic spread with high mortality rates in multiple waves, leaving others with moderate to severe symptoms. Co-morbidity variables, including hypertension, diabetes, and immunosuppression, have exacerbated the severity of COVID-19. In addition, numerous efforts have been made to comprehend the pathogenic and host variables that contribute to COVID-19 susceptibility and pathogenesis. One of these endeavours is understanding the host genetic factors predisposing an individual to COVID-19. Genome-Wide Association Studies (GWAS) have demonstrated the host predisposition factors in different populations. These factors are involved in the appropriate immune response, their imbalance influences susceptibility or resistance to viral infection. This review investigated the host genetic components implicated at the various stages of viral pathogenesis, including viral entry, pathophysiological alterations, and immunological responses. In addition, the recent and most updated genetic variations associated with multiple host factors affecting COVID-19 pathogenesis are described in the study.


Assuntos
COVID-19 , Viroses , Humanos , SARS-CoV-2/genética , COVID-19/genética , Estudo de Associação Genômica Ampla
9.
Cureus ; 13(9): e18053, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34671532

RESUMO

Acute abdominal pain is a common cause of visits to the emergency department. Acute appendicitis remains the most common indication for abdominal surgical intervention in the pediatric age group. However, several conditions may present with a clinical picture similar to that of acute appendicitis. We report the case of a 7-year-old girl with a history of right lower quadrant abdominal pain of two days in duration. The pain was associated with vomiting and was exacerbated by movement. Abdominal examination revealed a localized tenderness in the right iliac fossa with guarding, giving the impression of acute appendicitis. After a thorough investigation, the patient was diagnosed as having acute omental infarction given the radiological findings seen in the computed tomography scan. The patient was successfully managed conservatively with analgesics and anti-inflammatory drugs. Physicians should keep a high index of suspicion for this condition when encountering a patient presenting with an acute right lower quadrant abdominal pain. Imaging modalities play a pivotal role in making the diagnosis.

10.
Int Med Case Rep J ; 14: 829-837, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34984031

RESUMO

BACKGROUND: Granulomatosis with polyangiitis (GPA) is an extremely rare autoimmune, necrotizing granulomatous disease of unknown etiology affecting small and medium-sized blood vessels. Chronic pulmonary aspergillosis (CPA) is a rare fungal infection with high morbidity and mortality that usually affects immunocompetent or mildly immunosuppressed patients with underlying respiratory disease. Antifungal agents (voriconazole, itraconazole) are the mainstay of therapy. Intravenous drug therapy (amphotericin B or an echinocandin), alone or in combination with azoles, is the last resort in special situations such as azole failure, resistance, or severe disease. Sometimes CPA and GPA coexist and are difficult to distinguish due to the nonspecific symptoms and similarity of clinical and radiological features, so a high degree of suspicion is required to make the correct diagnosis. CASE PRESENTATION: We reported that a 28-year-old man from Saudi Arabia was diagnosed with GPA. The patient had been complaining of cough, fatigue, polyarthralgia and red eyes for 40 days before he was admitted to our hospital. The diagnosis of GPA was confirmed by clinical and radiological examinations and a pathological report of a lung biopsy, and he was treated with immunosuppressive drugs. The patient's condition was complicated by chronic pulmonary aspergillosis and type 2 diabetes mellitus. Initial treatments included systemic glucocorticoids, methotrexate, followed by rituximab and voriconazole, finally intravenous cyclophosphamide and amphotericin B, with no complete remission. The thoracic surgical team postponed surgical debridement of the significant cavitary lung lesions until the active fungal infection could be brought under control. CONCLUSION: The clinical and radiological features of GPA are similar to those of pulmonary tuberculosis, chronic pulmonary aspergillosis, and lung cancer. The lack of clear clinical symptoms of GPA requires a high degree of suspicion for early diagnosis. This case illustrates the dilemma of diagnosis and treatment of GPA and superimposed fungal infection. Secondary infection, particularly fungal infection, must be considered when GPA cannot be controlled with an immunosuppressant.

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