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1.
Arch. endocrinol. metab. (Online) ; 68: e220334, 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1520078

ABSTRACT

ABSTRACT Bisphosphonates (BPs) are medications widely used in clinical practice to treat osteoporosis and reduce fragility fractures. Its beneficial effects on bone tissue have been consolidated in the literature for the last decades. They have a high affinity for bone hydroxyapatite crystals, and most bisphosphonates remain on the bone surface for a long period of time. Benefits of long-term use of BPs: Large and important trials (Fracture Intervention Trial Long-term Extension and Health Outcomes and Reduced Incidence with Zoledronic acid Once Yearly-Pivotal Fracture Trial) with extended use of alendronate (up to 10 years) and zoledronate (up to 6 years) evidenced significant gain of bone mineral density (BMD) and vertebral fracture risk reduction. Risks of long-term use of BPs: The extended use of antiresorptive therapy has drawn attention to two extremely rare, although severe, adverse events. That is, atypical femoral fracture and medication-related osteonecrosis of the jaw are more common in patients with high cumulative doses and longer duration of therapy. BPs have demonstrated safety and effectiveness throughout the years and evidenced increased BMD and reduced fracture risks, resulting in reduced morbimortality, and improved quality of life. These benefits overweight the risks of rare adverse events.

2.
Article in English | LILACS-Express | LILACS | ID: biblio-1535303

ABSTRACT

ABSTRACT This study presents a case of atypical manifestation of secondary syphilis. Diagnosis was initiated prompted by the patient's complaint of a lower lip lesion, present for three months, resembling a malignant neoplasm. The lesion, a 3 cm (diameter) ulcerated nodule, arising from conjunctive tissue, raised concern. However, further physical examination revealed additional clinical features, including cervical micropolyadenopathy and erythematous skin lesions, prompting a reevaluation of the diagnosis, most likely secondary syphilis. These findings led to a serological investigation, which, ultimately, confirmed the diagnosis of syphilis. The case underscores the importance of recognizing syphilis as a formidable imitator, posing challenges in establishing differential diagnoses of mucocutaneous diseases.

3.
Pediatr. (Asunción) ; 50(3)dic. 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1534960

ABSTRACT

Introducción: La infección por Chikungunya se presenta fiebre y afectación cutánea. Las manifestaciones neurológicas, incluyen encefalopatías principalmente encefalitis; afectación periférica como mielitis, o una combinación de éstas. Objetivo: Describir la frecuencia y las manifestaciones neurológicas asociadas a infección por virus Chikungunya en el periodo enero-marzo 2023 en una población pediátrica. Materiales y Métodos: Estudio descriptivo retrospectivo de corte transversal de serie de casos Ingresaron menores de 18 años con manifestaciones neurológicas y resultados positivos PCR RT a virus Chikungunya que acudieron a un Hospital Público en enero-marzo del 2023. Las variables: demográficas, tiempo de evolución, síntomas, diagnósticos neurológicos, estudio de líquido cefalorraquídeo, electroencefalograma, estudios imagenológicos, tratamiento, ingreso a Unidad de Cuidados Intensivos, disfunción orgánica, mortalidad. Los datos se analizaron en SPSS utilizando estadística descriptiva. El protocolo fue aprobado por el comité de ética. Resultados: Ingresaron 24 pacientes, con edad de 10.0 ±1 meses. El 58.7% de sexo masculino. Como síntoma neurológico, el 54.1% tuvo convulsión. Los diagnósticos neurológicos, el 83.3% fue Encefalitis. Los pacientes con diagnóstico de Encefalitis, 75% fueron menores de 3 meses, 50% con líquido cefalorraquídeo patológico, 45% se realizó Electroencefalografía, 50% recibió inmunoglobulinas. El 50% ingresaron a Unidad de Cuidados Intensivos. Pediátricos. El 60% presentó disfunción orgánica. La mortalidad fue del 4.2%. Conclusión: El diagnóstico neurológico más frecuente fue la encefalitis, predominó en lactantes menores de 3 meses. Los síntomas neurológicos fueron: crisis convulsivas e irritabilidad. Más de la mitad presentaron disfunción orgánica, se registró la mortalidad de un paciente.


Introduction: Chikungunya infection present clinically with fever and skin involvement. Neurological manifestations include encephalopathies, mainly encephalitis and meningoencephalitis; peripheral involvement such as myelitis, Guillain Barré Syndrome; or a combination of these such as encephaloneuromyelopathy. Objective: To describe the frequency and neurological manifestations associated with Chikungunya virus infection during the January-March 2023 time period in a pediatric population. Materials and Methods: This was a descriptive, retrospective and cross-sectional study of a case series. Minors under 18 years of age were admitted with neurological manifestations and positive RT-PCR results for Chikungunya virus who presented to a Public Hospital in January-March 2023. The variables were: demographics, reason for hospitalization, symptoms, neurological diagnoses, cerebrospinal fluid study, electroencephalogram, imaging studies, treatment, admission to the Intensive Care Unit, organic dysfunction and mortality. Data were analyzed in SPSS using descriptive statistics. The protocol was approved by the Ethics Committee. Results: 24 patients were admitted, aged 10.0 ±16 months. 58.7% were male. As a neurological symptom, 54.1% had a seizure. Among the neurological diagnoses, 83.3% were encephalitis. Among the patients diagnosed with encephalitis, 75% were younger than 3 months, 50% had pathological cerebrospinal fluid, 45% underwent electroencephalography, and 50% received immunoglobulins. 50% were admitted to the Pediatric Intensive Care Unit. 60% presented organic dysfunction. Mortality was 4.2%. Conclusions: The most frequent neurological diagnosis was encephalitis, it predominated in infants under 3 months. The neurological symptoms were: seizures and irritability. More than half presented organic dysfunction, one patient expired.

4.
Indian J Pathol Microbiol ; 2023 Sept; 66(3): 624-626
Article | IMSEAR | ID: sea-223496

ABSTRACT

CML is characterized by the presence of a BCR-ABL1 fusion transcript. Several guidelines have been published for its detection and molecular monitoring. Here, a case is described of chronic myeloid leukemia presenting in the blast phase with a rare variant transcript, with a discussion on possible red flags in its detection and genetic testing and description of the patient's clinical characteristics. This case highlights the pitfalls of using real-time quantitative reverse-transcription polymerase chain reaction (RQ-PCR) for diagnosis of CML, especially when the clinical picture and the test results are discordant.

5.
Rev. argent. microbiol ; 55(2): 8-8, jun. 2023. graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1449406

ABSTRACT

Resumen La enfermedad del legionario (EL) es una neumonía aguda grave, que ocurre espo-rádicamente o como epidemias, y que, generalmente, requiere hospitalización. El objetivo deeste trabajo fue describir la experiencia en el abordaje diagnóstico de laboratorio de la ELen Argentina durante el período 2016-2021. Se analizaron 168 especímenes clínicos correspondientes a 93 casos de neumonía con sospecha de EL. Las pruebas de laboratorio incluyeron ladeterminación del antígeno soluble de Legionella pneumophila serogrupo 1 en orina, la detec-ción de ADN de Legionella spp. en secreciones respiratorias bajas, por métodos moleculares convencionales y comerciales de tipo sindrómico, y el cultivo en medio selectivo. Se confirmó EL en 12 pacientes. El antígeno urinario confirmó el diagnóstico de 8 de ellos. Se recuperó L. pneumophila mediante el cultivo del material respiratorio de 6 pacientes que correspondieron a casos de neumonía asociada a cuidados de la salud y que fueron previamente diagnosticados por el método molecular comercial. La mitad de ellos no presentó antigenuria detectable. En un único paciente no hubo antigenuria detectable ni recuperación de Legionella en cultivo, y la confirmación de EL se basó en la detección de ADN de Legionella spp. por PCR en secreción respiratoria y el vínculo epidemiológico con otro caso de EL confirmado por cultivo. La detección del antígeno urinario es la prueba diagnóstica de primera línea. Sin embargo, la incorporación de métodos moleculares complementarios ha demostrado evitar falsos negativos y contribuir a un mejor conocimiento de la verdadera incidencia de la enfermedad.


Abstract Legionnaires' disease (LD) is severe acute pneumonia that occurs in sporadic or epidemic form, and generally requires hospitalizaron. The objective of this work was to describe the experience in the LD laboratory diagnostic approach in Argentina during the period 2016-2021. The laboratory analyzed 168 clinical specimens from 93 cases of suspected LD pneu-monia. Laboratory tests included the detection of the soluble antigen of Legionella pneumophila serogroup 1 in urine sample, detection of DNA of Legionella spp. in lower respiratory secre-tions by conventional and commercial molecular methods and isolation in selective medium. LD was confirmed in 12 patients. The urinary antigen allowed the diagnosis for 8 patients. L. pneumophila was isolated from the respiratory material of 6 patients suffering from health care-associated pneumonia, who had been previously diagnosed using the commercial molecular method. Fifty percent of these cases did not show detectable urinary antigen. A single patient did not shows neither detectable antigenuria nor isolation of Legionella from the respiratory sample and was diagnosed as a confirmed case of LD by the detection of DNA of Legionella spp. by PCR directly from the respiratory secretion and the epidemiological link with another case of confirmed LD by culture. Urinary antigen detection is the first-line diagnostic test. However, the incorporation of complementary molecular methods has proved to avoid false negatives and contributed to a better understanding of the true incidence of the disease.

6.
Pediatr. (Asuncion) ; 50(1)abr. 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1431030

ABSTRACT

Introducción: La fiebre chikungunya (FCHIK) es una enfermedad febril transmitida por mosquitos, que en el niño tiene manifestaciones clínicas diferentes, dependiendo del grupo de edad. Objetivo: el presente trabajo tiene el propósito de identificar las características clínicas y evolutivas de la FCHIK en pacientes ≤15 años, que acudieron al Instituto de Medicina Tropical (IMT). Materiales y método: estudio observacional, descriptivo retrospectivo, basado en revisión de historias clínicas de pacientes de 0 y 15 años, que consultaron al IMT, entre noviembre/2022 y marzo/ 2023, con diagnóstico de FCHIK. Resultados: de 2050 pacientes febriles que consultaron al IMT entre noviembre/2022 y marzo/2023, 301 fueron casos de FCHIK, 10,6% (32/301) requirió hospitalización, de estos el 62,5% (20/32) era ≤1 año. La presencia de vómitos (p<0.0001.OR= 5,5 IC95% 2.2-13.2), dolor abdominal (p<0.0001.OR=40.5,5 IC95% 4.5-364.3); erupción maculo-papular-ampollar p<0.008. OR=3.5, IC95% 1.3 - 9.1), fue significativamente más frecuente en los hospitalizados. El 37.5% (12/32) fue hospitalizado en UCI y 15,6% (5/32) requirió ARM, 18.7%(6/32) presentó miocarditis; 15.6%(5/32) encefalitis, y 3.1%(1/32) encefalitis y miocarditis. No se registraron óbitos. Conclusiones: La décima parte de los pacientes con FCHIK requirieron hospitalización, de estos más de la mitad fueron <1 año. Las manifestaciones clínicas más frecuentes fueron fiebre, exantema, vómitos, irritabilidad, artralgias, lesiones ampollares. La leucopenia fue significativamente más frecuente en ≤1 año. La edad <3 meses, así como vómitos, exantema vesículo-ampollar, presencia de choque, irritabilidad, convulsiones, dolor abdominal y dificultad respiratoria se asociaron significativamente al requerimiento de hospitalización. Las complicaciones más frecuentes fueron el choque, la miocarditis y la encefalitis.


Introduction: Chikungunya fever (CHKF) is a febrile disease transmitted by mosquitoes, which presentes different clinical manifestations in children, depending on their age group. Objective: to describe the clinical and outcome characteristics of CHKF in patients ≤15 years old, who presented to the Institute of Tropical Medicine (ITM). Materials and methods: this was a retrospective, descriptive and observational study, based on the review of medical records of patients between 0 and 15 years of age, who were evaluated at the ITM, between November/2022 and March/2023, who were diagnosed with CHKF. Results: of 2050 febrile patients who consulted at the ITM between November/2022 and March/2023, 301 were cases of CHKF, 10.6% (32/301) required hospitalization, of which 62.5% (20/32) were ≤ 1 year of age. The presence of vomiting (p<0.0001, OR= 5.5, 95% CI 2.2-13.2), abdominal pain (p<0.0001, OR=40.5.5, 95% CI 4.5-364.3); maculo-papular-bullous rash (p<0.008, OR=3.5, 95% CI 1.3 - 9.1), was significantly more frequent in hospitalized patients. 37.5% (12/32) were hospitalized in the ICU and 15.6% (5/32) required ARM, 18.7% (6/32) presented myocarditis; 15.6%(5/32) encephalitis, and 3.1%(1/32) had both encephalitis and myocarditis. No deaths were registered. Conclusions: One tenth of the patients with CHKF required hospitalization, of which more than half were <1 year of age. The most frequent clinical manifestations were fever, rash, vomiting, irritability, arthralgia, and bullous lesions. Leukopenia was significantly more frequent in those ≤1 year of age. Age <3 months, as well as vomiting, vesicular-bullous rash, shock, irritability, seizures, abdominal pain, and respiratory distress were significantly associated with the need for hospitalization. The most frequent complications were shock, myocarditis and encephalitis.

7.
Article | IMSEAR | ID: sea-218010

ABSTRACT

Background: For decades, it has been observed that mental health is shrouded in stigma and discrimination. The scope, severity, and expense of impairment and costs to people, families, and societies are staggering. Mental illnesses are among the most frequent illnesses, affecting over a quarter of the population in any given year. According to national institute of mental health and neurosciences, Bangalore, the prevalence of schizophrenia has been considered as 4/1000 for all ages and both sexes. Aim and Objectives: The objectives of this study were to as follows: (1) To evaluate adverse drug reactions (ADRs) in patients with schizophrenia who received antipsychotic treatment and (2) to compare ADRs in typical versus atypical antipsychotic agents in schizophrenic patients. Materials and Methods: A total of 50 schizophrenic patients were enrolled for evaluating adverse effects to antipsychotic drugs. During the research, all ethical precautions were taken. All patients were followed up by medical history, history of drugs, and any severity of adverse drug reaction. Causality assessment was graded by Naranjo scale. Result: Among all of the antipsychotic drugs, risperidone (05%), quetiapine (04%), and aripiprazole (04%) have shown lowest propensity to cause serious adverse event. These drugs are most commonly prescribed drugs and are least likely to affect quality of life of patient. However, the risk of extrapyramidal symptoms is lower with olanzapine (05%) than haloperidol (34%) and even in case with risperidone at higher dose (20%). Although atypical antipsychotics such as olanzapine (46%) have shown maximum potential to produce metabolic side effect such as dyslipidemia and hyperglycemia compared to that of other antipsychotics. Conclusion: The most common adverse effects were found with typical and atypical antipsychotics such as weight gain, drowsiness, constipation, sedation, dyslipidemia, and hypotension.

8.
Indian J Cancer ; 2023 Mar; 60(1): 121-124
Article | IMSEAR | ID: sea-221765

ABSTRACT

Atypical choroid plexus papilloma is classified as WHO (World Health Organization) Grade II subtype of choroid plexus tumor, and it has intermediate pathological features, prognosis, and clinical outcome rates between choroid plexus papilloma and choroid plexus carcinoma. These tumors are more common in children compared with adults and are usually located in the lateral ventricles. We present a case of an adult with atypical choroid plexus papilloma located in the infratentorial region. A 41?year?old woman underwent evaluation for headache and dull aching neck pain. Magnetic resonance imaging (MRI) of the brain revealed a well?defined intraventricular mass lesion in the fourth ventricle and foramen of Luschka. She underwent craniotomy and gross total excision of the lesion. Histopathological and immunohistochemical findings confirmed the diagnosis of atypical choroid plexus papilloma (WHO Grade II). We discuss the various treatment options for this condition and review the relevant literature.

9.
Article | IMSEAR | ID: sea-218346

ABSTRACT

Drug reaction with eosinophilia and systemic symptom (DRESS) syndrome is a rare severe drug-induced idiosyncratic hypersensitivity characterized by maculopapular and/or erythrodermic eruption, fever, peripheral lymphadenopathy, eosinophilia or atypical lymphocytosis, and visceral organ involvement. The estimated incidence of this syndrome ranges from 1/1000 to 1/10,000 drug exposures. In this report, we describe a case of DRESS syndrome in a young female with a unique presentation. The DRESS syndrome can be difficult to diagnose as its clinical findings can mimic those of other systemic diseases. This case emphasizes the importance of incorporation of the patient’s clinical and medication history in the interpretation of hematological investigations.

10.
Article | IMSEAR | ID: sea-216462

ABSTRACT

Background: Atypical presentations of acute coronary syndrome (ACS) delay its recognition and treatment in the elderly patients. Functional decline and delirium which are common to the elderly during hospitalization, leads to cognitive impairment and poor health outcomes. Steps taken for its prevention is usually not considered the top priority by the cardiologist. The present study was conducted to identify cognitive decline among elderly patients who developed ACS during hospitalization for noncardiac illness and their outcome. Materials and Methods: Three hundred and ten elderly patients above 60 years of age with ACS were included from June 26, 2020 to October 13, 2020. Subjects were divided into those admitted primarily due to an ACS (Group I, n = 94) and those developing ACS following admission for noncardiac illness (Group II, n = 216). Co-morbidities, medications, investigations, management, clinical outcome, and Montreal Cognitive Assessment scale were compared between the two groups at the time of admission, after 30 days and after 6 months. Results: Majority of the subjects were admitted due to acute kidney injury (27.1%) in Group II and had a non-ST elevation ACS (90.2%). Optimum management was given to a lesser extent due to the clinical condition of these patients. Poor clinical outcome, cognitive impairment during hospitalization and cognitive decline during follow-up was more in Group II. Conclusion: Clinicians must be vigilant for the development of cognitive impairment and cognitive decline when an elderly patient is admitted to the hospital, as early detection and optimum management provides better clinical and cognitive outcome.

11.
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1418181

ABSTRACT

A pandemia da COVID-19 exigiu medidas de proteção que repercutiram no modo de vida das famílias. Os impactos podem ter sido mais intensos em famílias com crianças com deficiência ou transtorno global do desenvolvimento (TGD) que necessitam de cuidados e estímulos específicos. O objetivo deste estudo foi analisar o impacto do isolamento social na percepção de estresse, estresse parental e apoio social percebido por mães e pais de crianças com deficiência/TGD. Trata-se de um estudo transversal com 37 participantes, em duas fases independentes de coleta de dados (F1; F2). Utilizou-se instrumentos autoaplicáveis disponibilizados em um Formulário Google: Questionário Sociodemográfico; Questionário sobre percepção da influência do isolamento social na dinâmica familiar; Escala de Estresse Percebido; Escala de Estresse Parental e Escala de Apoio Social. Observou-se que a percepção de estresse em F2 foi significativamente maior que em F1 e em famílias com mais de um filho (p


The COVID-19 pandemic required protect actions with quarantine and social distancing, which had an impact on families' lifestyle. The impacts of the pandemic may have been even more intense in families of children with disabilities or pervasive developmental disorder (PDD) who need specific care. This study aims to analyze the impact of the social distancing situation on the perception of stress, parental stress and perceived social support by mothers and fathers of children with disabilities/PDD with 11 years old or more, and associations between these variables. This is a cross-sectional study with 37 participants in two independent phases. The following self-administered instruments were available in a Google Form: Sociodemographic Questionnaire; Questionnaire on the perception of the influence of social distancing resulting from the pandemic on family dynamics; Perceived Stress Scale; Parental Stress Scale and Social Support Scale. There was a significatively higher stress perception between mothers in Phase 2 (P2>P1) and higher stress among families with more than one child. Most mothers referred social support, an increase in the stress perception with children care and stress comparing the phases. This study demonstrated the importance of social support to parents' adaptation in stress increasing related to pandemic situation


Subject(s)
COVID-19 , Social Support , Stress, Psychological , Life Change Events
12.
Journal of the ASEAN Federation of Endocrine Societies ; : 135-140, 2023.
Article in English | WPRIM | ID: wpr-1003692

ABSTRACT

@#Atypical femoral fractures (AFFs) are rare adverse effects of bisphosphonate therapy. We report an unusual case of bilateral diaphyseal AFFs in an antiresorptive-naïve Singaporean Chinese female with Graves’ disease. She presented with complete right AFF requiring surgical fixation, and persistent left incomplete AFF for over four years. Femoral bowing, varus femoral geometry, and ethnic influence likely contributed to the AFFs’ formation. This case may provide insights into the pathogenesis of AFFs in high-risk Asian populations.


Subject(s)
Diphosphonates , Hyperthyroidism
13.
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery ; (12): 557-563, 2023.
Article in Chinese | WPRIM | ID: wpr-996348

ABSTRACT

@#Objective     To compare the perioperative outcomes of atypical segmentectomy between robotic-assisted thoracoscopic surgery (RATS) and conventional video-assisted thoracoscopic surgery (VATS) in early-stage non-small cell lung cancer (NSCLC). Methods    The data of patients who underwent minimally invasive anatomic atypical segmentectomy in our hospital from October 2016 to December 2021 were collected. These patients were divided into a RATS group and a VATS group according to the operation method. Propensity score (PS) matching was used to select patients with close clinical baseline characteristics, and the perioperative results of the two groups were compared. Results    A total of 1 048 patients were enrolled, including 320 males and 728 females, with a mean age of 53.51±11.13 years. There were 277 patients in the RATS group and 771 patients in the VATS group. After 1∶1 PS matching, 277 pairs were selected. Both groups were well balanced for age, sex, smoking history, body mass index, Charlson comorbidity index, pulmonary function, tumor size, tumor location, and histological type. All patients were R0 resection, and there were no deaths within 30 days after surgery. The RATS group had shorter operative time [85 (75, 105) min vs. 115 (95, 140) min, P<0.001] and less blood loss [50 (30, 100) mL vs. 60 (50, 100) mL, P=0.001]. There were no statistical differences between the two groups in lymph node resection, conversion to thoracotomy, thoracic drainage time, total amount of thoracic drainage or postoperative complications (P>0.05). Conclusion    Both RATS and VATS atypical segment-ectomies are safe and feasible for early-stage NSCLC. RATS can effectively shorten the operative time, and reduce blood loss.

14.
Chinese Journal of Dermatology ; (12): 463-467, 2023.
Article in Chinese | WPRIM | ID: wpr-994491

ABSTRACT

Clinical and histological features of Spitz nevi, atypical Spitz tumors and spitzoid melanoma overlap each other, making their identification challenging. Combined with clinical and histological features of spitzoid melanocytic tumors, this review summarizes research progress in their immunohistochemical features and application of fluorescence in situ hybridization in their identification.

15.
China Pharmacy ; (12): 1999-2002, 2023.
Article in Chinese | WPRIM | ID: wpr-980595

ABSTRACT

OBJECTIVE To investigate the characteristics and regularity of denosumab-associated atypical fractures (AF), so as to provide references for clinical rational use of drugs. METHODS The case reports of AF related to denosumab were retrieved from PubMed, Web of Science, CNKI, Wanfang data and VIP databases, and the reports were descriptively analyzed. RESULTS A total of 19 references were retrieved, including 20 patients. There were 3 males and 17 females, with an average age of (69.80± 15.39) years. Among 20 patients, primary diseases of 14 patients were osteoporosis, and 6 cases were malignant tumor bone metastasis and giant cell tumor of bone. The occurrence time of AF ranged from 3 to 132 months after the administration of denosumab, with an average of (42.14±29.49) months. Fourteen cases had prodromal symptoms before AF. There were 3 cases of ulna fractures, and the remaining 17 cases were femoral fractures. The vast majority of patients recovered well after discontinuing medication and undergoing surgical fixation, but some patients experienced delayed fracture healing. CONCLUSIONS Long-term use of denosumab should be vigilant against AF. When patients experience prodromal symptoms such as thigh, groin, hip joint and forearm pain, they should seek medical attention in a timely manner to ensure medication safety.

16.
China Pharmacy ; (12): 195-199, 2023.
Article in Chinese | WPRIM | ID: wpr-959747

ABSTRACT

OBJECTIVE To explore the relationship between the ANKK1 rs1800497 polymorphism and atypical antipsychotic drug-induced metabolic syndrome (MS). METHODS Totally 94 patients with schizophrenia were included, and ANKK1 rs1800497 genotypes of patients were detected by micro-fluorescence immunoassay; social demographic information, clinical characteristics and other data were collected. The χ2 test was used to compare the correlation between the sex of patients and the occurrence of MS, and the correlation between gene polymorphism and the occurrence of MS and its risk factors.RESULTS Totally 94 patients included 24 cases (25.53%) of GG, 51 cases (54.26%) of GA and 19 cases of AA (20.21%). Among them, there were 45 cases (47.87%) of MS, and the incidence of MS in male was higher than that in female (P<0.05). Genotype analysis showed that ANKK1 rs1800497 polymorphism was not associated with MS (P=0.452). ANKK1 rs1800497 A allele was significantly associated with hyperglycemia (χ2=4.379, P=0.036), while it was not related to abdominal obesity, hypertension, high level of TG and low level of HDL-C (P>0.05), suggesting that for patients with schizophrenia, allele A was a relative risk factor for inducing hyperglycemia [OR=2.008,95%CI(1.039, 3.881)]. CONCLUSIONS ANKK1 rs1800497 polymorphism has no correlation with the induction of MS by atypical antipsychotics, while the schizophrenia patients with A allele are more likely to induce hyperglycemia. The incidence of MS in male patients is significantly higher than that in female patients.

17.
Organ Transplantation ; (6): 68-2023.
Article in Chinese | WPRIM | ID: wpr-959022

ABSTRACT

Thrombotic microangiopathy (TMA) is a severe complication after kidney transplantation, mainly characterized by thrombocytopenia, microvascular hemolytic anemia and acute kidney injury, which may lead to kidney allograft failure or even death of the recipients. With the increasing quantity of solid organ transplantation in China and deeper understanding of TMA, relevant in-depth studies have been gradually carried out. Kidney transplantation-associated TMA is characterized with different causes and clinical manifestations. Non-invasive specific detection approach is still lacking. The diagnosis of TMA mainly depends on renal biopsy. However, most TMA patients are complicated with significant thrombocytopenia. Hence, renal puncture is a risky procedure. It is difficult to make a definite diagnosis. For kidney transplantation-associated TMA, plasma exchange, intravenous immunoglobulin and withdrawal of potential risk drugs are commonly employed. Nevertheless, the overall prognosis is poor. In this article, the classification of TMA after kidney transplantation, diagnosis and treatment of kidney transplantation-associated TMA were reviewed, aiming to provide reference for clinical diagnosis and treatment of kidney transplantation-associated TMA.

18.
Chinese Journal of Applied Clinical Pediatrics ; (24): 431-437, 2023.
Article in Chinese | WPRIM | ID: wpr-990055

ABSTRACT

Objective:To summarize the clinical data of anti-factor H antibody-associated atypical hemolytic uremic syndrome (aHUS) in children, and analyze the risk factors for disease recurrence and poor prognosis.Methods:A prospective cohort study was conducted on 52 children with anti-factor H antibody-associated aHUS in Beijing Children′s Hospital, Capital Medical University from November 2011 to November 2021.Patient information about the genetic background, clinical and renal pathological characteristics, treatment, and prognosis were collected.Then, the disease recurrence and prognosis were analyzed using the survival curve and Cox regression model. Results:In 52 children, there were 33 males and 19 females.The average age of onset for aHUS was 2.4-12.8 years, and 92.3%(48/52) of the children developed symptoms at the age of 4-12 years.The copy numbers of complement factor-H-related 1 (CFHR1) and complement factor-H-related 3 (CFHR3) genes were calculated in 42 children.Among the 42 cases, 18 cases (42.9%) had CFHR1 homozygous deletion, and 83.3% (15/18) of them also had CFHR3 homozygous deletion.All the patients were given plasma therapy.Besides, 76.9% (40/52) of the children were treated with immunosuppressive therapy (steroid and/or immunosuppressant) at the first onset of the disease.About 86.5%(45/52 cases) of the patients received immunosuppressive therapy in the course of disease, and the immunosuppressive treatment lasted for 6-20 months in total.The median follow-up time was 58 (28, 91) months.Among 52 patients, only 12 patients (23.1%) suffered disease recurrence.The relapse-free survival rate in children with CFHR1 homozygous deletion was significantly lower than that in children with non-homozygous deletion ( χ2=4.700, P=0.030). The relapse-free survival rate in children with CFHR1 and CFHR3 homozygous deletions was also significantly lower than that in other children ( χ2=4.181, P=0.041). At the end of the follow-up, 73.1%(38/52) of the children had normal renal function and no persistent proteinuria or hypertension.23.1%(12/52 cases) of the children had persistent proteinuria and/or hypertension.One child had Stage 3-4 chronic kidney disease, and 1 child was dialysis dependent. Conclusions:Anti-factor H antibody-associated aHUS is prone to occur in children aged between 4-12 years old, who respond well to plasma therapy and immunosuppressive therapy.Children with anti-factor H antibody-associated aHUS and CFHR1 and CFHR3 homozygous deletions have a high recurrence rate.Treatment with immunosuppressive therapy and assessment of the copy number of CFHR1 and CFHR3 genes in the early stage of the disease are important for preventing disease recurrence and improving prognosis.

19.
Chinese Journal of Applied Clinical Pediatrics ; (24): 427-430, 2023.
Article in Chinese | WPRIM | ID: wpr-990054

ABSTRACT

Atypical hemolytic uremic syndrome (aHUS) is a rare acute and critical disease in childhood, which is easy to lead to acute kidney injury, and has a high mortality rate and chronic kidney disease incidence if not diagnosed and treated in time.According to the etiology, aHUS can be classified into hereditary and acquired.Anti-factor H antibody associated aHUS is acquired and mainly occurs in children aged 5 to 15 years.Anti-factor H antibody associated aHUS is strongly associated with homozygous deletion of the complement H related protein 1/3 (CFRH1/3) gene.In recent years, there have been significant advances in the etiology, genetics, and immunology of aHUS, especially the treatment of Eculizumab, which has greatly improved the prognosis of the disease.However, at present, there are still problems that need to be solved in the pathogenesis, diagnosis, treatment and prognosis of antibody-related aHUS, and this article will discuss the above content and put forward corresponding prospects to provide reference for clinical and scientific research.

20.
International Journal of Pediatrics ; (6): 512-515, 2023.
Article in Chinese | WPRIM | ID: wpr-989123

ABSTRACT

Chlamydia trachomatis is one of the atypical pathogens, also a strict intracellular parasite with unique developmental cycle of prokaryotic microorganisms, resulting in infantile respiratory infections and conjunctivitis.Chlamydia trachomatis is associated with respiratory diseases such as chronic cough and bronchial asthma in children.Children infected with Chlamydia trachomatis generally have a good prognosis after treatment.At present, important progress has been made in the development of Chlamydia trachomatis vaccine.This article reviews the progress in etiology, epidemiology, clinical features, laboratory inspection, diagnosis, treatment and prevention of Chlamydia trachomatis, providing a new direction for clinical recognition and effective treatment of Chlamydia trachomatis infection.

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