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1.
J Dent Sci ; 19(4): 2295-2304, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39347027

ABSTRACT

Background/purpose: Erythema multiforme (EM) is considered a hypersensitivity reaction associated with drugs and infections, and remains underestimated due to the lack of precise classification and diagnostic criteria. The aim of this study was to evaluate the triggering factors and clinical manifestations of EM and to present our experience in the diagnosis and management of this disorder. Materials and methods: All patient records were reviewed, and records of patients admitted, diagnosed, and treated with EM were retrieved. Data on age, gender, medical history, triggering factor(s), clinical form, mucosal/cutaneous involvement, affected oral site(s), recurrence, and treatment were collected. The data were analyzed statistically at a significance level set at P < 0.05. Results: A total of 36 EM patients were studied. The triggering factor was identified as infection in 25 %, drugs in 16.7 %, infections and drugs in 41.7 %, and none in 16.7 % of the 36 EM patients. EM minor was diagnosed in 77.8 % of the patients. Labial mucosa (86.1 %) was the most commonly affected oral site. Most patients were treated with topical steroids (25 %). No significant differences were detected between demographic and clinical characteristics with regards to gender, triggering factor, and the number of affected oral sites (P > 0.05). Conclusion: The results of this study, based on the data from 36 EM patients with oral involvement treated at our clinic, can guide dentists in this regard and may be considered as an epidemiological source for the region.

2.
Thromb Res ; 243: 109146, 2024 Sep 06.
Article in English | MEDLINE | ID: mdl-39244872

ABSTRACT

BACKGROUND: Pulmonary embolism (PE) is a common and potentially fatal disease, with differences in mortality rates among PE patients of different sexes. This study aims to investigate the disparities in clinical manifestations and in-hospital mortality rates between sexes in PE patients, as well as the association of clinical symptoms with in-hospital mortality. METHODS: We analyzed data from the China pUlmonary thromboembolism REgistry Study (CURES), a nationwide, multicenter, prospective registry focusing on patients with acute PE. Using propensity score matching (PSM) to pair male and female patients with PE, we explored the correlation between clinical symptoms and in-hospital mortality through multivariable regression analysis. RESULTS: A total of 15,203 patients with acute PE were enrolled, and 380 died during hospitalization. The incidence of chest pain, hemoptysis, and palpitations was significantly higher in males compared to females. The incidence of dyspnea, fever, and syncope was higher in females. Hemoptysis and dyspnea were associated with increased in-hospital mortality in males, whereas dyspnea, fever, and palpitations were linked to higher mortality in females. Overall, males exhibited a higher in-hospital mortality than females (2.9 % vs. 2.1 %, p = 0.002). After matching 13,130 patients using the PSM method, the mortality rate of males remained higher than that of females (2.7 % vs. 2.1 %, p = 0.020). CONCLUSIONS: Our study demonstrates that male patients with PE have a higher risk of in-hospital mortality than females. Significant differences in clinical symptoms between sexes are associated with increased mortality risk, emphasizing the need for clinical awareness.

3.
Chin Clin Oncol ; 13(Suppl 1): AB024, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39295342

ABSTRACT

BACKGROUND: Due to their location, sellar region tumors can affect a patient's quality of life by mass compression effect and disrupting pituitary function. The treatment choice is determined by some factors, including the presence of mass effect and whether the tumor is secreting or non-secreting. This study assessed the preoperative and postoperative clinical manifestation, hormonal, and head magnetic resonance imaging (MRI) profile of sellar region tumor in Dr. Saiful Anwar General Hospital, East Java. METHODS: This study used a descriptive, cross-sectional design. Data were taken from sellar region tumor registry of Dr. Saiful Anwar General Hospital from March 2023 to April 2024. RESULTS: Twenty-five patients were included in the study, with 18 (72%) women and 22 patients (88%) aged 41-60 years old. The most frequent neurological symptom was blurred vision (23 patients; 92%). Hormones checked were thyroid hormones [free T4 (FT4), T3, thyroid-stimulating hormone (TSH)], prolactin, cortisol, growth hormone, and gonadotropic hormone [testosterone, follicle-stimulating hormone (FSH), and luteinizing hormone (LH)], but not all patients were checked for all these hormones. Patients were further classified into having low, normal, or high level of the respective hormones, and patients mostly had normal levels. Pituitary macroadenoma was the frequently suspected tumor from head MRIs (11 patients; 44%). Eleven patients underwent tumor excision. Ten patients showed pituitary adenoma and one patient showed pituicytoma on histopathological examination. Mean levels of FT4, T3, and prolactin were decreased after surgery, but TSH and cortisol levels were increased. On postoperative head MRI, four patients showed reduced mass size and one patient showed no residual lesion. CONCLUSIONS: While pituitary macroadenoma was suspected in most head MRIs in this study, most of them were likely non-secreting. Therefore, surgical approach remained the mainstay of treatment. The need for medical management for hormonal disturbances was minimal. While postoperative data were incomplete, some findings from our patients showed that surgical approach could indeed reduce mass effect by improving bitemporal hemianopsia and pituitary deficit.


Subject(s)
Pituitary Neoplasms , Humans , Cross-Sectional Studies , Female , Male , Middle Aged , Adult , Pituitary Neoplasms/surgery , Magnetic Resonance Imaging/methods , Hospitals, General
4.
J Med Case Rep ; 18(1): 429, 2024 Sep 06.
Article in English | MEDLINE | ID: mdl-39238050

ABSTRACT

BACKGROUND: Dentatorubral-pallidoluysian atrophy is a rare autosomal dominant neurodegenerative disease. It is a rare disease in the world. Therefore, sharing clinical encounters of this case can deepen global awareness and understanding of the disease. CASE PRESENTATION: The patient was a 34-year-old male of Han nationality who was unmarried. The patient was admitted owing to weakness of the left lower limb with walking instability for 2 months and aggravation for 1 month. There was no dizziness, headache, numbness of limbs, convulsions, nausea, vomiting, abdominal pain, ataxia, nausea, vomiting, or abdominal pain. No nausea, vomiting, diarrhea, abdominal distension, tinnitus, hearing loss, fever, cough, expectoration. Personal history: worked in Cambodia 5 years ago, worked in Dubai 3 years ago, engaged in computer work, smoking or drinking habits. The patient was unmarried. Family history: the mother had symptoms similar to walking unsteadily (undiagnosed). Positive signs include a wide-base gait with a rotatory nystagmus that jumps upward in both eyes. Bilateral finger-nose instability test was quasi-positive, rapid alternating test was negative, and eye closure tolerance test was positive. Tendon reflexes were active in both upper limbs and hyperreflexia in both lower limbs. Stability of the heel, knee, and tibia. Genetic testing showed that the number of repeats in the dentatorubral-pallidoluysian atrophy ATN1 gene was 18 and 62, and the (CAG)n repeat sequence in the ATN1 gene was abnormal, with a repeat number of 62, and the patient was a pathogenic variant. The patient was diagnosed with dentatorubral-pallidoluysian atrophy. Dentatorubral-pallidoluysian atrophy remains a progressive neurodegenerative disease with no effective treatment. At present, the proband is taking 5 mg of buspirone three times a day, which has been reported to improve the symptoms. The patient was followed up for 6 months after taking buspirone, and there was no significant improvement in the temporary symptoms. At present, there are few cases of dentatorubral-pallidoluysian atrophy, and the characteristics of nystagmus in this disease have not been proposed in the past. This case reported the unusual presentation of nystagmus. CONCLUSION: Dentatorubral-pallidoluygur atrophy is a rare neurodegenerative disease with autosomal dominant inheritance. To the best of our knowledge, our present case report is the first case report of dentatorubral-pallidoluygur atrophy with specific nystagmus. We describe the special eye shake and its positive signs to increase dentatorubral-pallidoluysian atrophy clinical positive signs.


Subject(s)
Myoclonic Epilepsies, Progressive , Humans , Male , Adult , Myoclonic Epilepsies, Progressive/genetics , Myoclonic Epilepsies, Progressive/physiopathology , Nerve Tissue Proteins/genetics
5.
Zhongguo Dang Dai Er Ke Za Zhi ; 26(8): 893-898, 2024 Aug 15.
Article in Chinese | MEDLINE | ID: mdl-39148397

ABSTRACT

Pharyngitis can be caused by various pathogens, including viruses and bacteria. Group A streptococcus (GAS) is the most common bacterial cause of pharyngitis. However, distinguishing GAS pharyngitis from other types of upper respiratory tract infections is challenging in clinical settings. This often leads to empirical treatments and, consequently, the overuse of antimicrobial drugs. With the advancement of antimicrobial drug management and healthcare payment reform initiatives in China, reducing unnecessary testing and prescriptions of antimicrobial drugs is imperative. To promote standardized diagnosis and treatment of GAS pharyngitis, this article reviews various international guidelines on the clinical diagnosis and differential diagnosis of GAS pharyngitis, particularly focusing on clinical scoring systems guiding laboratory testing and antimicrobial treatment decisions for GAS pharyngitis and their application recommendations, providing a reference for domestic researchers and clinical practitioners.


Subject(s)
Pharyngitis , Streptococcal Infections , Streptococcus pyogenes , Humans , Pharyngitis/microbiology , Pharyngitis/drug therapy , Pharyngitis/diagnosis , Streptococcal Infections/diagnosis , Streptococcal Infections/drug therapy
6.
Front Pediatr ; 12: 1442034, 2024.
Article in English | MEDLINE | ID: mdl-39188640

ABSTRACT

Background: Fetus-in-fetu (FIF) represents an exceedingly rare disease, characterized as an encapsulated and pedunculated vertebrate neoplasm, typically lacking cerebral tissue. The prevalence shows no gender preference. Notably, FIF can cause compressive damage to adjacent organs and tissues, potentially impeding the host's development and maturation. Case presentation: A four-month-old male infant was identified, during pregnancy, to have a left-sided pelvic mass on ultrasound. Subsequent evaluations suggested the mass could be a FIF, exhibiting active movement. Surgical exploration revealed that the mass's left boundary was connected to the left spermatic cord and vas deferens. Pathological analysis post-surgery showed the absence of testicular tissue, but the presence of skin tissue, cartilage-like structures, and gastrointestinal elements. Additionally, localized tissue resembling vertebrae confirmed the diagnosis of testicular FIF. Conclusion: An intraperitoneal testicular FIF is extremely rare, with its cause still unknown. This groundbreaking report details the diagnosis and management of such a case. Following a FIF diagnosis, prompt surgical removal is crucial, along with regular follow-up using ultrasound and tumor markers.

7.
J Health Popul Nutr ; 43(1): 132, 2024 Aug 27.
Article in English | MEDLINE | ID: mdl-39192358

ABSTRACT

PURPOSE: To evaluate the therapeutic efficacy of intravenous amoxicillin clavulanate potassium combined with nebulized budesonide and ambroxol hydrochloride in pediatric community-acquired pneumonia (CAP) and its impact across various microbial strains and clinical symptoms. The primary objective of this study is to evaluate the efficacy of intravenous amoxicillin-clavulanate combined with nebulized budesonide and ambroxol hydrochloride in the treatment of pediatric community-acquired pneumonia (CAP), and to analyze their impact on different microbial strains and clinical symptoms. Secondary objectives include assessing the treatment's effect on the improvement of clinical symptoms, hospital stay duration, and the levels of inflammatory markers. DESIGN: Prospective, single-center study. METHODS: Fifty-six children with CAP, aged under 6 years, from Affiliated Maternity and Child Health Care Hospital of Nantong University were included. Patients were treated with conventional therapy and the study medication. Clinical characteristics, microbiological data, symptom improvement, and hospitalization times were analyzed. FINDINGS: Young children, particularly under 1 year, exhibited a higher incidence of multiple microbial infections and severe clinical manifestations. Treatment with budesonide and ambroxol hydrochloride led to significant clinical improvement across all age groups, with notable efficacy against various pathogens. CONCLUSIONS: Nebulized budesonide and ambroxol hydrochloride are effective in treating pediatric CAP, offering a promising therapeutic option, particularly for young children with severe presentations.


Subject(s)
Ambroxol , Budesonide , Community-Acquired Infections , Nebulizers and Vaporizers , Humans , Ambroxol/administration & dosage , Ambroxol/therapeutic use , Budesonide/administration & dosage , Budesonide/therapeutic use , Female , Male , Child, Preschool , Infant , Prospective Studies , Community-Acquired Infections/drug therapy , Treatment Outcome , Administration, Inhalation , Amoxicillin-Potassium Clavulanate Combination/administration & dosage , Amoxicillin-Potassium Clavulanate Combination/therapeutic use , Child , Pneumonia/drug therapy , Anti-Bacterial Agents/administration & dosage , Anti-Bacterial Agents/therapeutic use , Expectorants/administration & dosage , Expectorants/therapeutic use , Biomarkers/blood , Drug Therapy, Combination , Length of Stay
8.
BMC Pediatr ; 24(1): 532, 2024 Aug 20.
Article in English | MEDLINE | ID: mdl-39164659

ABSTRACT

BACKGROUND: Alagille syndrome (ALGS) is a multisystem genetic disorder frequently characterized by hepatic manifestations. This study analyzed the clinical, pathological, and molecular genetic features of ALGS to improve the efficiency of clinical diagnosis. METHODS: We retrospectively analyzed the clinical manifestations, pathological examination findings, and genetic testing results of 17 children diagnosed with ALGS based on the revised criteria and hospitalized at our center from January 2012 to January 2022. RESULTS: The clinical manifestations are as follows: Cholestasis (16/17, 94%), characteristic facies (15/17, 88%), heart disease (12/16, 75%), butterfly vertebrae (12/17, 71%) and posterior embryotoxon (7/12, 58%). Among the 15 patients who underwent liver pathology examination, 13 (87%) were found to have varying degrees of bile duct paucity. Genetic testing was performed on 15 children, and pathogenic variants of the jagged canonical Notch ligand 1 (JAG1) gene were identified in 13 individuals, including 4 novel variants. No pathogenic variant in the notch homolog 2 (NOTCH2) gene were identified, and 2 children exhibited none of the aforementioned gene pathogenic variants. The median follow-up duration was 7 years. Of the remaining 15 patients (excluding 2 lost to follow-up), 11 remained stable, 4 deteriorated, and no patient died during the follow-up period. CONCLUSIONS: Among children diagnosed with ALGS, cholestasis stands as the most common feature. To minimize the risk of misdiagnosis, genetic testing should be performed on children exhibiting cholestasis, followed by the application of the revised diagnostic criteria for ALGS. While pharmacological therapy has shown effectiveness for ALGS patients, liver transplantation may be considered in instances of severe pruritus.


Subject(s)
Alagille Syndrome , Genetic Testing , Jagged-1 Protein , Humans , Alagille Syndrome/genetics , Alagille Syndrome/diagnosis , Male , Female , Retrospective Studies , Child, Preschool , Infant , Jagged-1 Protein/genetics , Child , Cholestasis/genetics
9.
Zhongguo Dang Dai Er Ke Za Zhi ; 26(8): 823-828, 2024 Aug 15.
Article in Chinese | MEDLINE | ID: mdl-39148386

ABSTRACT

OBJECTIVES: To study the clinical characteristics of children with anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). METHODS: A retrospective analysis was conducted on the clinical data of 25 children diagnosed with AAV at the Second Xiangya Hospital of Central South University from January 2010 to June 2022. RESULTS: Among the AAV children, there were 5 males and 20 females, with a median age of onset of 11.0 years. Involvement of the urinary system was seen in 18 cases (72%); respiratory system involvement in 10 cases (40%); skin involvement in 6 cases (24%); eye, ear, and nose involvement in 5 cases (20%); joint involvement in 4 cases (16%); digestive system involvement in 2 cases (8%). Eleven cases underwent kidney biopsy, with 5 cases (46%) showing focal type, 2 cases (18%) showing crescentic type, 2 cases (18%) showing mixed type, and 2 cases (18%) showing sclerotic type. Immune complex deposits were present in 5 cases (45%). Seven cases reached chronic kidney disease (CKD) stage V, with 2 cases resulting in death. Two cases underwent kidney transplantation. At the end of the follow-up period, 2 cases were at CKD stage II, and 1 case was at CKD stage III. Of the 16 cases of microscopic polyangiitis (MPA) group, 13 (81%) involved the urinary system. Of the 9 cases of granulomatosis with polyangiitis (GPA), 6 cases (66%) had sinusitis. Serum creatinine and uric acid levels were higher in the MPA group than in the GPA group (P<0.05), while red blood cell count and glomerular filtration rate were lower in the MPA group (P<0.05). CONCLUSIONS: AAV is more common in school-age female children, with MPA being the most common clinical subtype. The onset of AAV in children is mainly characterized by renal involvement, followed by respiratory system involvement. The renal pathology often presents as focal type with possible immune complex deposits. Children with MPA often have renal involvement, while those with GPA commonly have sinusitis. The prognosis of children with AAV is poor, often accompanied by renal insufficiency.


Subject(s)
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis , Humans , Female , Male , Child , Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis/complications , Retrospective Studies , Adolescent , Child, Preschool , Renal Insufficiency, Chronic/etiology
10.
Cureus ; 16(7): e64311, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39130937

ABSTRACT

The presentation of acute coronary syndrome (ACS) in patients with type 2 diabetes mellitus (T2DM) may differ from that of non-diabetic patients, potentially leading to delayed diagnosis and treatment. This meta-analysis aimed to compare the clinical presentation of ACS between diabetic and non-diabetic patients. A systematic search of PubMed, Excerpta Medica database (EMBASE), and Web of Science databases was conducted for observational studies published from January 2010 onwards. Studies comparing ACS symptoms between diabetic and non-diabetic patients were included. The odds ratio (OR) with 95% confidence intervals (CI) was calculated using a random-effects model. Eight studies with a total of 29,503 patients (23.03% diabetic) were included. Diabetic patients were significantly less likely to present with chest pain compared to non-diabetic patients (OR: 0.43, 95% CI: 0.30 to 0.63, p<0.001). Anxiety (OR: 2.20, 95% CI: 1.17-4.14), shortness of breath (OR: 1.49, 95% CI: 1.11-2.01), and neck pain (OR: 1.62, 95% CI: 1.03-2.54) were significantly more common in diabetic patients. Sweating/cold sweat was less common in diabetics (OR: 0.60, 95% CI: 0.34-1.07), though not statistically significant. Other symptoms showed minimal differences between groups. High heterogeneity was observed across studies for most symptoms. This meta-analysis demonstrates that diabetic patients with ACS are less likely to experience typical chest pain and more likely to present with atypical symptoms such as anxiety, shortness of breath, and neck pain. These findings emphasize the need for healthcare providers to maintain high vigilance for atypical ACS presentations in diabetic patients. Tailored diagnostic approaches, modified triage protocols, and enhanced patient education are crucial to improving the timely diagnosis and treatment of ACS in this high-risk population.

11.
BMC Public Health ; 24(1): 1975, 2024 Jul 23.
Article in English | MEDLINE | ID: mdl-39044209

ABSTRACT

INTRODUCTION: Identifying clinical factors that increase the risk of mortality in COVID-19 patients is crucial. This enables targeted screening, optimizing treatment, and prevention of severe complications, ultimately reducing death rates. This study aimed to develop prediction models for the death of patients (i.e., survival or death) during the COVID-19 pandemic in Shiraz, exploring the main influencing factors. METHOD: We conducted a retrospective cohort study using hospital-based records of 1030 individuals diagnosed with COVID-19, who were hospitalized for treatment between March 21, 2021, and March 21, 2022, in Shiraz, Iran. Variables related to the final outcome were selected based on criteria and univariate logistic regression. Hierarchical multiple logistic regression and classification and regression tree (CART) models were utilized to explore the relationships between potential influencing factors and the final outcome. Additionally, methods were employed to identify the high-risk population for increased mortality rates during COVID-19. Finally, accuracy was evaluated the performance of the models, with the area under the receiver operator characteristic curve(AUC), sensitivity, and specificity metrics. RESULTS: In this study, 558 (54.2%) individuals infected with COVID-19 died. The final model showed that the type of medicine antiviral (OR: 11.10, p = 0.038) than reference (antiviral and corticosteroid), and discharge oxygen saturation(O2) (OR: 1.10, p < 0.001) had a positive association with the chance of survival, but other variables were not considered as predictive variables. Predictive models for the final outcome(death) achieved accuracies ranging from 81 to 87% for hierarchical multiple logistic regression and from 87 to 94% for the CART model. Therefore, the CART model performed better than the hirerical multiple logistic regression model. CONCLUSION: These findings firstly elucidate the incidence and associated factors of the outcome (death) among patients in Shiraz, Iran. Furthermore, we demonstrated that antiviral medication alone (without corticosteroids) and high O2 increase the survival chances of COVID patients.


Subject(s)
COVID-19 , Humans , COVID-19/mortality , COVID-19/epidemiology , Male , Female , Iran/epidemiology , Retrospective Studies , Middle Aged , Adult , Aged , Risk Factors , Logistic Models , Regression Analysis , SARS-CoV-2 , Pandemics
12.
Antibodies (Basel) ; 13(2)2024 Jun 17.
Article in English | MEDLINE | ID: mdl-38920971

ABSTRACT

Elevated immunoglobulin E (IgE) levels are commonly associated with allergies. However, high IgE levels are also found in several other infectious and non-infectious disorders. Elevated IgE levels typically suggest allergies, eczema, or recurrent skin infections. Hyperimmunoglobulin E (hyper-IgE) levels typically reflect a monogenic atopic condition or inborn immune defects with an atopic phenotype. The aim of our research is to investigate and observe the clinical characteristics of children with increased IgE levels who have previously manifested infectious diseases. Furthermore, the retrospective study considers other factors, such as demographic characteristics (sex, area/environment, and age), and their effect on IgE serum levels. To answer this question, we conducted a one-year hospital-based retrospective study that included 200 hospitalized children who had at least two viral or bacterial infections in the six months preceding hospitalization. Measurements of IgE and allergen panels (respiratory and digestive) using blood samples revealed that individuals who tested positive for the body's synthesis of hyper-IgE were not observably allergic to any potential allergens despite having higher total serum IgE. According to the results, there was a strong correlation between elevated IgE serum levels and a history of infectious diseases among the patients.

13.
Cureus ; 16(5): e60306, 2024 May.
Article in English | MEDLINE | ID: mdl-38882957

ABSTRACT

Cervical myelopathy is caused by compression of the cervical spinal cord for any reason. Cervical myelopathy most commonly affects the C5-6 level. However, C7-T1 single-level myelopathy is rare, and neurological findings may be atypical, making diagnosis difficult. We report three cases and discuss their clinical manifestations. Unlike other levels of cervical myelopathy, C7-T1 single-level myelopathy may present with gait disturbance without neurological deficits in the upper extremities. In addition, all three of our cases had different levels of spinal cord compression and locations of sensory deficits; at the C7-T1 level, the spinal cord compression may not correspond to the site of the sensory deficit. These features may help clinicians in the diagnosing of myelopathy.

14.
Article in Russian | MEDLINE | ID: mdl-38884442

ABSTRACT

Presented clinical observation of anti-NMDA-receptor encephalitis, which was first described in 2007, is rare and to date has not been sufficiently studied. The disease often manifests with psychopathological symptoms and catatonia, so patients are transferred into a mental healthcare institution and often require intensive care and resuscitation, due to the development of life-threatening respiratory and hemodynamic disorders. Diagnosis is based on detection of autoantibodies to the NR1- and NR2 subunits of the glutamate NMDA receptor in blood serum and cerebrospinal fluid. Pathogenesis-based therapy includes the administration of glucocorticoids and intravenous immunoglobulins, plasmapheresis, as well as the introduction of monoclonal antibodies in also used, and in severe cases, cytostatics are prescribed. The widespread comorbidity of anti-NMDA receptor encephalitis with ovarian neoplasms in women (up to 60%) requires appropriate diagnosis and early removal of ovarian neoplasms when they are detected. With timely diagnosis and adequate treatment strategies, the outcome of this rare disorder is usually positive.


Subject(s)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis , Autoantibodies , Ovarian Neoplasms , Adult , Female , Humans , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/diagnosis , Anti-N-Methyl-D-Aspartate Receptor Encephalitis/complications , Autoantibodies/blood , Autoantibodies/cerebrospinal fluid , Catatonia/etiology , Catatonia/diagnosis , Immunoglobulins, Intravenous/therapeutic use , Mental Disorders/etiology , Mental Disorders/diagnosis , Ovarian Neoplasms/complications , Ovarian Neoplasms/diagnosis , Plasmapheresis , Receptors, N-Methyl-D-Aspartate/metabolism
15.
Genes (Basel) ; 15(6)2024 Jun 18.
Article in English | MEDLINE | ID: mdl-38927740

ABSTRACT

Retinitis pigmentosa (RP) is a heterogeneous inherited retinal disorder. Mutations in KIZ cause autosomal recessive (AR) RP. We aimed to characterize the genotype, expression pattern, and phenotype in a large cohort of KIZ cases. Sanger and whole exome sequencing were used to identify the KIZ variants. Medical records were reviewed and analyzed. Thirty-one patients with biallelic KIZ mutations were identified: 28 homozygous for c.226C>T (p.R76*), 2 compound heterozygous for p.R76* and c.3G>A (p.M1?), and one homozygous for c.247C>T (p.R83*). c.226C>T is a founder mutation among patients of Jewish descent. The clinical parameters were less severe in KIZ compared to DHDDS and FAM161A cases. RT-PCR analysis in fibroblast cells revealed the presence of four different transcripts in both WT and mutant samples with a lower percentage of the WT transcript in patients. Sequence analysis identified an exonic sequence enhancer (ESE) that includes the c.226 position which is affected by the mutation. KIZ mutations are an uncommon cause of IRD worldwide but are not rare among Ashkenazi Jews. Our data indicate that p.R76* affect an ESE which in turn results in the pronounced skipping of exon 3. Therefore, RNA-based therapies might show low efficacy since the mutant transcripts are spliced.


Subject(s)
Mutation , Retinitis Pigmentosa , Adolescent , Adult , Female , Humans , Male , Middle Aged , Exome Sequencing/methods , Eye Proteins/genetics , Jews/genetics , Pedigree , Phenotype , Retinitis Pigmentosa/genetics , Retinitis Pigmentosa/pathology
16.
Microbiol Spectr ; 12(8): e0361523, 2024 Aug 06.
Article in English | MEDLINE | ID: mdl-38904371

ABSTRACT

To analyze the characteristics of Mycoplasma pneumoniae as well as macrolide antibiotic resistance through whole-genome sequencing and comparative genomics. Thirteen clinical strains isolated from 2003 to 2019 were selected, 10 of which were resistant to erythromycin (MIC >64 µg/mL), including 8 P1-type I and 2 P1-type II. Three were sensitive (<1 µg/mL) and P1-type II. One resistant strain had an A→G point mutation at position 2064 in region V of the 23S rRNA, the others had it at position 2063, while the three sensitive strains had no mutation here. Genome assembly and comparative genome analysis revealed a high level of genome consistency within the P1 type, and the primary differences in genome sequences concentrated in the region encoding the P1 protein. In P1-type II strains, three specific gene mutations were identified: C162A and A430G in L4 gene and T1112G mutation in the CARDS gene. Clinical information showed seven cases were diagnosed with severe pneumonia, all of which were infected with drug-resistant strains. Notably, BS610A4 and CYM219A1 exhibited a gene multi-copy phenomenon and shared a conserved functional domain with the DUF31 protein family. Clinically, the patients had severe refractory pneumonia, with pleural effusion, necessitating treatment with glucocorticoids and bronchoalveolar lavage. The primary variations between strains occur among different P1-types, while there is a high level of genomic consistency within P1-types. Three mutation loci associated with specific types were identified, and no specific genetic alterations directly related to clinical presentation were observed.IMPORTANCEMycoplasma pneumoniae is an important pathogen of community-acquired pneumonia, and macrolide resistance brings difficulties to clinical treatment. We analyzed the characteristics of M. pneumoniae as well as macrolide antibiotic resistance through whole-genome sequencing and comparative genomics. The work addressed primary variations between strains that occur among different P1-types, while there is a high level of genomic consistency within P1-types. In P1-type II strains, three specific gene mutations were identified: C162A and A430G in L4 gene and T1112G mutation in the CARDS gene. All the strains isolated from severe pneumonia cases were drug-resistant, two of which exhibited a gene multi-copy phenomenon, sharing a conserved functional domain with the DUF31 protein family. Three mutation loci associated with specific types were identified, and no specific genetic alterations directly related to clinical presentation were observed.


Subject(s)
Anti-Bacterial Agents , Drug Resistance, Bacterial , Genome, Bacterial , Microbial Sensitivity Tests , Mycoplasma pneumoniae , Pneumonia, Mycoplasma , Mycoplasma pneumoniae/genetics , Mycoplasma pneumoniae/drug effects , Mycoplasma pneumoniae/classification , Mycoplasma pneumoniae/isolation & purification , Humans , Anti-Bacterial Agents/pharmacology , Genome, Bacterial/genetics , Pneumonia, Mycoplasma/microbiology , Pneumonia, Mycoplasma/drug therapy , Drug Resistance, Bacterial/genetics , Male , Female , Whole Genome Sequencing , Middle Aged , Macrolides/pharmacology , Adult , Mutation , RNA, Ribosomal, 23S/genetics , Genomics , Aged , Erythromycin/pharmacology
17.
Front Cell Infect Microbiol ; 14: 1394352, 2024.
Article in English | MEDLINE | ID: mdl-38938882

ABSTRACT

Introduction: Accurate identification of the etiology of orthopedic infection is very important for correct and timely clinical management, but it has been poorly studied. In the current study we explored the association of multiple bacterial pathogens with orthopedic infection. Methods: Hospitalized orthopedic patients were enrolled in a rural hospital in Qingdao, China. Wound or exudate swab samples were collected and tested for twelve bacterial pathogens with both culture and multiplex real time PCR. Results and discussion: A total of 349 hospitalized orthopedic patients were enrolled including 193 cases presenting infection manifestations upon admission and 156 with no sign of infection. Orthopedic infection patients were mainly male (72.5%) with more lengthy hospital stay (median 15 days). At least one pathogen was detected in 42.5% (82/193) of patients with infection while 7.1% (11/156) in the patients without infection (P < 0.001). S. aureus was the most prevalent causative pathogen (15.5%). Quantity dependent pathogen association with infection was observed, particularly for P. aeruginosa and K. pneumoniae, possibly indicating subclinical infection. Most of the patients with detected pathogens had a previous history of orthopedic surgery (odds ratio 2.8, P = 0.038). Pathogen specific clinical manifestations were characterized. Multiplex qPCR, because of its high sensitivity, superior specificity, and powerful quantification could be utilized in combination with culture to guide antimicrobial therapy and track the progression of orthopedic infection during treatment.


Subject(s)
Multiplex Polymerase Chain Reaction , Humans , Female , Male , Middle Aged , Aged , China/epidemiology , Adult , Bacteria/isolation & purification , Bacteria/classification , Bacteria/genetics , Bacterial Infections/microbiology , Bacterial Infections/diagnosis , Hospitalization , Aged, 80 and over , Real-Time Polymerase Chain Reaction , Hospitals, Rural
18.
World J Hepatol ; 16(4): 517-536, 2024 Apr 27.
Article in English | MEDLINE | ID: mdl-38689748

ABSTRACT

The coronavirus disease 2019 (COVID-19) pandemic has caused changes in the global health system, causing significant setbacks in healthcare systems worldwide. This pandemic has also shown resilience, flexibility, and creativity in reacting to the tragedy. The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection targets most of the respiratory tract, resulting in a severe sickness called acute respiratory distress syndrome that may be fatal in some individuals. Although the lung is the primary organ targeted by COVID-19 viruses, the clinical aspect of the disease is varied and ranges from asymptomatic to respiratory failure. However, due to an unorganized immune response and several affected mechanisms, the liver may also experience liver cell injury, ischemic liver dysfunction, and drug-induced liver injury, which can result in respiratory failure because of the immune system's disordered response and other compromised processes that can end in multisystem organ failure. Patients with liver cirrhosis or those who have impaired immune systems may be more likely than other groups to experience worse results from the SARS-CoV-2 infection. We thus intend to examine the pathogenesis, current therapy, and consequences of liver damage concerning COVID-19.

19.
J Infect Public Health ; 17(6): 1117-1124, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38723321

ABSTRACT

BACKGROUND: We investigated the clinical manifestation and severity of COVID-19 infection represented as a composite outcome (hospital or ICU admission, or in-hospital death) among infected fully vaccinated HCWs, the RT-PCR test Ct value (Cycle Threshold) of positive fully vaccinated HCWs, and we measure the interval from the second vaccine to acquiring the infection. METHODS: A multicenter retrospective cohort study was conducted in different regions at (16) Ministry of Defense Health Services (MODHS) hospitals. Data were restricted to fully vaccinated (minimum of 2 doses) HCWs who had a confirmed positive PCR test and employed in MODHS hospitals from August 2021 to March 2022. RESULTS: A total of 45862 HCWs were vaccinated as of Aug 2021. Of these 1253 participants met the selection criteria and were included in the study. The average age of infected HCWs was 35.27 years (SD = ± 8.10) of which 57% were females. The HCWs were employed as doctors (24%), nurses (33%), and other (43%). The most administered vaccine type was mRNA (44%) followed by Adenovirus Viral Vector (39%) and mixed vaccine (17%). The incidence of COVID-19 vaccine breakthrough (BT) infection among HCWs was observed at 2.73% (m-RNA 3.19%, Viral Vector 2.83% and mixed 1.87%). CONCLUSION: the overall COVID-19 (BT) infection incidence proportion was (2.73%), with the Mixed vaccine group showing the lowest (BT) incidence proportion (1.87%). The most commonly reported symptoms among (BT) infections were cough (51%), sore throat (51%), fever (47%), headache (31%), and runny nose (23%), with overall (6%) asymptomatic (BT) infections. We had (1%) hospital admissions, Zero ICU admission, and Zero deaths. our finding may indicate that infection affecting fully vaccinated patients were less severe and mostly affected the upper respiratory tract.


Subject(s)
COVID-19 Vaccines , COVID-19 , Health Personnel , SARS-CoV-2 , Humans , Female , Male , Saudi Arabia/epidemiology , COVID-19 Vaccines/administration & dosage , Retrospective Studies , COVID-19/prevention & control , COVID-19/epidemiology , Adult , Health Personnel/statistics & numerical data , SARS-CoV-2/immunology , Middle Aged , Vaccination/statistics & numerical data , Hospitals/statistics & numerical data , Breakthrough Infections
20.
J Multidiscip Healthc ; 17: 2185-2202, 2024.
Article in English | MEDLINE | ID: mdl-38736541

ABSTRACT

Purpose: To recommend the classification of unilateral genital tract obstruction with ipsilateral renal anomaly (UGTOIRA) syndrome into five types based on the site of obstruction, and to analyze the clinical manifestations and precise diagnosis of the syndrome. Methods: The data, including demographic characteristics, symptoms, and precise diagnoses from 59 patients over the last decade, were retrospectively analyzed. Data analysis was conducted using the statistical software package SPSS 26.0. Results: All 59 patients diagnosed with UGTOIRA syndrome were classified into five types based on the site of obstruction: Type I (vaginal obstruction) (45, 76.3%), Type II (cervicovaginal obstruction) (7, 11.9%), Type III (cervical obstruction) (3, 5.1%), Type IV (unilateral partial cervical aplasia) (3, 5.1%), and Type V (Unilateral isthmus atresia) (1, 1.7%). Of these cases, there were 34 cases (57.6%) with communication and 25 cases (42.4%) without communication between the left and right genital tracts. The chief complaints included dysmenorrhea alone in 28 cases (47.5%), dysmenorrhea accompanied by blood dripping after menstruation in 12 cases (20.3%), blood dripping after menstruation alone in 14 cases (23.7%), purulent vaginal secretions in one case (1.7%), vaginal pain in one case (1.7%), irregular menstruation in one case (l.7%), and infertility in two cases (3.4%). The precise diagnostic criteria include the affected side, abnormalities in the kidney and ureter, the site of obstruction, the location of blood accumulation, the size of the ipsilateral genital tract, whether there is communication and its site, the type based on the site of obstruction, and the presence and type of complications. Conclusion: This classification of UGTOIRA syndrome encompasses the anatomical features of all cases reported in our study. Only by fully understanding the anatomical characteristics of this syndrome and identifying its clinical manifestations can clinicians make precise diagnoses as early as possible and provide individualized management.

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