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1.
Malays J Pathol ; 45(2): 157-173, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37658526

RESUMO

Anti-nuclear antibody test (ANA) is the test commonly requested for the working diagnosis of systemic autoimmune rheumatic diseases (SARDs) particularly in ANA-associated rheumatic diseases (AARDs) such as SLE, systemic sclerosis, Sjogren syndrome, mixed connective tissue diseases, and dermatomyositis. Dense fine speckled (DFS) pattern is an ANA fluorescence pattern that is commonly encountered in laboratories. This pattern is largely detected among the healthy population and in non-SARDs patients. Although this pattern is still can be observed among SARDs patients, the low prevalence of monospecific or isolated anti-DFS70 antibodies makes it useful for ruling out AARDs diagnosis. Thus, the inclusion of anti-DFS70 antibodies is perhaps logical for the exclusion of SARDs/AARDs. This review provides evidence of the prevalence of anti-DFS70 antibodies in different populations including healthy individuals, patients with SARDs and non- SARDs. The algorithm that includes the detection of anti-DFS70 antibodies during ANA screening is also suggested.


Assuntos
Relevância Clínica , Doenças Reumáticas , Humanos , Prevalência , Laboratórios , Algoritmos , Doenças Reumáticas/diagnóstico
2.
Malays J Pathol ; 45(3): 417-424, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38155383

RESUMO

BACKGROUND: Candida tropicalis is a globally distributed yeast that has been popping up in the medical literature lately, albeit for unenviable reasons. C. tropicalis is associated with substantial morbidity, mortality as well as drug resistance. The aims of this study were to ascertain the antifungal susceptibility profile and the biofilm-producing capability of this notorious yeast in our centre. METHODS: C. tropicalis isolates from sterile specimens were collected over a 12-month period. Conclusive identification was achieved biochemically with the ID 32 C kit. Susceptibility to nine antifungal agents was carried out using the colourimetric broth microdilution kit Sensititre YeastOne YO10. Biofilm-producing capability was evaluated by quantifying biomass formation spectrophotometrically following staining with crystal violet. RESULTS: Twenty-four non-repetitive isolates of C. tropicalis were collected. The resistance rates to the triazole agents were 29.2% for fluconazole, 16.7% for itraconazole, 20.8% for voriconazole and 8.3% for posaconazole-the pan-azole resistance rate was identical to that of posaconazole. No resistance was recorded for amphotericin B, flucysosine or any of the echinocandins tested. A total of 16/24 (66.7%) isolates were categorized as high biomass producers and 8/24 (33.3%) were moderate biomass producers. None of our isolates were low biomass producers. CONCLUSION: The C. tropicalis isolates from our centre were resistant only to triazole agents, with the highest resistance rate being recorded for fluconazole and the lowest for posaconazole. While this is not by itself alarming, the fact that our isolates were prolific biofilm producers means that even azole-susceptible isolates can be paradoxically refractory to antifungal therapy.


Assuntos
Antifúngicos , Fluconazol , Humanos , Antifúngicos/farmacologia , Fluconazol/farmacologia , Candida tropicalis , Candida , Testes de Sensibilidade Microbiana , Triazóis , Azóis , Biofilmes
3.
Malays J Pathol ; 44(2): 295-300, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36043594

RESUMO

Sporotrichosis is an infection caused by a thermally dimorphic fungus, Sporothrix schenckii which is commonly reported in the tropics and subtropics. Infection usually occurs as a consequence of traumatic inoculation into the skin. A previously healthy 33-year-old Malay woman presented with a scratch wound over the lateral aspect of her left thigh for 2 months after being scratched by her pet cat. Inspection of the wound revealed a granulomatous plaque measuring 3cm x 2cm with hyperkeratotic scales, fissures and multiple blackish pigments. There was a tender, palpable left inguinal lymph node measuring 1cm x 1cm but the overlying skin looked normal. She was prescribed two courses of antibiotics empirically, without any clinical improvement seen. During follow up and further history taking, the patient informed that her pet cat was diagnosed with sporotrichosis a month before the scratching incident took place, but she claimed that her pet cat had been treated and was cured. She was then empirically started with oral itraconazole 200mg twice a day for two months. Histopathological examination of a skin biopsy showed acute on chronic suppurative granulomatous inflammation but was negative for any fungal elements. However, culture of the skin biopsy isolated Sporothrix schenckii. A final diagnosis of localised cutaneous sporotrichosis was made and the oral itraconazole was continued for another two months. The wound improved dramatically since itraconazole started.


Assuntos
Sporothrix , Esporotricose , Animais , Antifúngicos/uso terapêutico , Gatos , Feminino , Humanos , Itraconazol/uso terapêutico , Esporotricose/diagnóstico , Esporotricose/tratamento farmacológico , Esporotricose/microbiologia
4.
Malays J Pathol ; 43(2): 333-336, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34448798

RESUMO

Salmonella intracranial infection is infrequently encountered in clinical practice. However, with prompt intervention and appropriate antimicrobial therapy, the outcome is usually favourable. A 56-year-old gentleman who worked as an organic fertilizer production supervisor underwent tumour resection for meningioma located at the left frontal temporoparietal region. The surgical procedure went smoothly, and he has prescribed dexamethasone thereafter. He was discharged well. However, a few days after that he developed a fever associated with pus discharged from the surgical wound. A computed tomography (CT) scan of the brain was performed and it revealed an abscess located at the left frontal temporoparietal subdural and subgaleal regions with adjacent cerebritis. Another craniotomy was done to drain the abscess. The bacterial culture of the pus specimen grew Salmonella Enteritidis. The bacterium was susceptible to ciprofloxacin, ceftriaxone, and amoxicillin-clavulanic acid. Clinical improvement was evident after surgical intervention with an additional 6 weeks of ceftriaxone therapy.


Assuntos
Abscesso Encefálico , Neoplasias Meníngeas , Meningioma , Infecções por Salmonella , Abscesso Encefálico/etiologia , Ceftriaxona , Craniotomia/efeitos adversos , Humanos , Masculino , Neoplasias Meníngeas/cirurgia , Meningioma/cirurgia , Pessoa de Meia-Idade , Salmonella enteritidis
5.
Malays J Pathol ; 43(2): 291-301, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34448793

RESUMO

BACKGROUND: Bloodstream infection (BSI) is a major cause of morbidity and mortality. The classification of infection into community-acquired, hospital-acquired, and healthcare-associated infection provides an educated guess on the possible aetiological agents and appropriate empirical antimicrobial therapy to be instituted. This study aims to determine the aetiological agents, the antimicrobial susceptibility patterns, and the classification of infections among the paediatric population. MATERIALS & METHODS: This study was conducted in Hospital Kuala Lumpur, Malaysia from January 2016 to December 2017. A total of 303 isolates were included in this study which was obtained from 238 patients. The patients' microbiological worksheets and medical notes were reviewed to determine the antimicrobial susceptibility patterns, demographic data, classification of infection, and outcome (survival versus death). RESULTS: Most of the patients were in the age group of one to less than five years old (41%) with 58% male and 85% Malay patients. Common causes of BSI were Staphylococcus aureus (17%), followed by Klebsiella pneumoniae (15%), Acinetobacter baumanii (10%), Pseudomonas aeruginosa (10%), and Escherichia coli (6%). Sixty percent of BSI episodes were caused by gram-negative bacteria, 34% by gram-positive bacteria, and 6% by fungi. Most of the infections were classified as hospital-acquired infections (72%), followed by healthcareassociated (20%) and community-acquired infections (8%). There were 33% of methicillin-resistant Staphylococcus aureus, 53% of extended-spectrum beta-lactamase (ESBL) producing Klebsiella pneumoniae, and 33% ESBL producing Escherichia coli. The overall case fatality rate (CFR) was 27% with the highest CFR caused by Serratia marcescens (53.3%). CONCLUSIONS: The majority of paediatric bloodstream infections are hospital-acquired. Improvement in prevention strategies and revisions in antibiotic policies are important to overcome it.


Assuntos
Bacteriemia , Sepse , Antibacterianos/uso terapêutico , Bacteriemia/tratamento farmacológico , Bacteriemia/epidemiologia , Pré-Escolar , Infecção Hospitalar/tratamento farmacológico , Infecção Hospitalar/epidemiologia , Escherichia coli , Feminino , Hospitais Gerais , Humanos , Lactente , Masculino , Staphylococcus aureus Resistente à Meticilina , Testes de Sensibilidade Microbiana , Estudos Retrospectivos
6.
Zhonghua Yi Xue Za Zhi ; 100(25): 1952-1955, 2020 Jul 07.
Artigo em Chinês | MEDLINE | ID: mdl-32629595

RESUMO

Objective: To describe the clinical features of anti-myelin oligodendrocyte glycoprotein (MOG) antibody-positive cortical encephalitis in children. Methods: Patients who were hospitalized in Beijing Children's Hospital from June 2018 to October 2019, with positive MOG antibodies and phenotype of cortical encephalitis were retrospectively analyzed. Cell-based assays (CBAs) were used to test MOG antibodies. Results: Five patients had the phenotype of cortical encephalitis during follow-up, with 3 females and 2 males. The age of onset ranged from 8 years to 12 years and 1 month. At the last follow-up, 3 cases exhibited a monophasic course and 2 cases were with relapse and remission courses. Six out of 8 episodes which had the phenotype of cortical encephalitis presented with seizures, among which 3 episodes had status epilepticus. None had recurrent seizures during remission. Other symptoms included fever (7/8), headache and vomiting (4/8), somnolence (3/8) and hemiplegia (1/8). Unilateral cortical swelling was observed in cerebral magnetic resonance imaging (MRI) of all patients, without any hemorrhage and necrosis. White blood cell (WBC) counts of cerebrospinal fluid increased, ranging from8×10(6)/L to 186×10(6)/L. All patients recovered well after treatment with intravenous immunogloblin and glucocorticoid. Two patients had relapses during follow-up and were additionally treated with mycophenolate mofetil. Conclusions: Anti-MOG antibodies can induce cortical encephalitis. In clinical setting, fever, headache and seizures are common, however, severe consciousness disturbance and local neurological deficits are rare in these patients. Cerebral MRI shows unilateral cortical swelling without any hemorrhage and necrosis. Usually, immunotherapy works well. No patients exist repeated seizures in remission, but some patients may have relapses.


Assuntos
Encefalite , Autoanticorpos , Criança , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Glicoproteína Mielina-Oligodendrócito , Estudos Retrospectivos , Convulsões
7.
Malays J Pathol ; 42(2): 293-296, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32860385

RESUMO

Trichosporon asahii is a yeast-like fungus that is emerging as an important cause of invasive infections in tertiary medical centres. A 58-year-old Chinese man with no known medical illnesses presented with liver lacerations and multiple fractures following an alleged 12-foot fall at a construction site. The gravity of his injuries and poor haemodynamic status necessitated an intensive care unit (ICU) admission, during which several febrile episodes were detected and multiple antibiotics were administered. After being in the ICU for at least two weeks, a urease-positive yeast was isolated from the patient's blood. The yeast formed dry, fuzzy and wrinkled white colonies on Sabouraud dextrose agar following prolonged incubation, and produced blastoconidia, true hyphae, pseudohyphae and arthroconidia on slide culture. It was identified biochemically by the ID 32 C kit as T. asahii. The yeast had elevated minimal inhibitory concentration (MIC) values to fluconazole, amphotericin B, flucytosine and all echinocandins tested. In view of this, the patient was treated with voriconazole and was successfully transferred to the general medical ward.


Assuntos
Basidiomycota , Traumatismo Múltiplo/complicações , Tricosporonose/tratamento farmacológico , Voriconazol/uso terapêutico , Anfotericina B/farmacologia , Antibacterianos/efeitos adversos , Antifúngicos/farmacologia , Basidiomycota/efeitos dos fármacos , Basidiomycota/isolamento & purificação , Basidiomycota/patogenicidade , Farmacorresistência Fúngica Múltipla , Fungemia/tratamento farmacológico , Humanos , Masculino , Testes de Sensibilidade Microbiana , Pessoa de Meia-Idade , Traumatismo Múltiplo/tratamento farmacológico , Voriconazol/farmacologia
8.
Malays J Pathol ; 42(1): 59-64, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32342931

RESUMO

INTRODUCTION: Fresh frozen plasma (FFP) is a blood component containing functional quantities of all coagulation factors stored at -18°C or below. FFP has to be thawed and transfused as soon as possible to prevent the loss of certain coagulation factor activities and to minimise microbial contamination. MATERIALS AND METHODS: Thirty units of FFP kept at -20°C were thawed using a 37°C water bath and immediately sampled for baseline Factor II (FII), Factor VIII (FVIII) and fibrinogen activity levels and sterility testing. Each unit was then divided into two smaller bags (i.e. Bag I and Bag II) and kept at 4°C. At 6 hours and Day 3, representative samples were taken from Bag I for coagulation factor activity assays, while at Day 5 representative samples were taken from Bag II for coagulation factor activity assays and sterility testing. RESULTS: FII activities at the four time points were 73.43%, 73.73%, 71% and 69.8%, respectively, while FVIII activities were 177.63%, 144.37%, 80.8% and 70.97%, respectively. Fibrinogen levels at the four time points were 3.24 g/L, 3.24 g/L, 3.21 g/L and 3.20 g/L, respectively. All samples were free from microbial contamination even at Day 5. CONCLUSION: The mean reduction in FII and fibrinogen activities on Day 5 was 5% and 1%, respectively. However, FVIII activity declined significantly by approximately 60% at Day 5. Despite these reductions, thawed plasma stored for up to 5 days at 4°C is still suitable for use as the coagulation factor activity levels still exceed the minimum release criteria recommended in quality assurance regulations.


Assuntos
Fatores de Coagulação Sanguínea , Plasma/metabolismo , Estudos Transversais , Contaminação de Medicamentos , Armazenamento de Medicamentos , Humanos , Estabilidade Proteica , Manejo de Espécimes , Fatores de Tempo
9.
Malays J Pathol ; 42(3): 401-407, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33361721

RESUMO

INTRODUCTION: Rifampicin is a key first-line antimycobacterial agent employed for the treatment of pulmonary tuberculosis (PTB). This study sought to obtain prevalence data on rifampicin-resistant Mycobacterium tuberculosis among smear-positive PTB patients in the Klang District of Malaysia. MATERIALS AND METHODS: A total of 103 patients from the Chest Clinic of Hospital Tengku Ampuan Rahimah with sputum smears positive for acid-fast bacilli were included in this cross-sectional study. All sputa were tested using Xpert MTB/RIF to confirm the presence of M. tuberculosis complex and detect rifampicin resistance. Sputa were also sent to a respiratory medicine institute for mycobacterial culture. Positive cultures were then submitted to a reference laboratory, where isolates identified as M. tuberculosis complex underwent drug susceptibility testing (DST). RESULTS: A total of 58 (56.3%) patients were newly diagnosed and 45 (43.7%) patients were previously treated. Xpert MTB/RIF was able to detect rifampicin resistance with a sensitivity and specificity of 87.5% and 98.9%, respectively. Assuming that a single resistant result from Xpert MTB/RIF or any DST method was sufficient to denote resistance, a total of 8/103 patients had rifampicinresistant M. tuberculosis. All eight patients were previously treated for PTB (p<0.05). The overall prevalence of rifampicin resistance among smear-positive PTB patients was 7.8%, although it was 17.8% among the previously treated ones. CONCLUSION: The local prevalence of rifampicin-resistant M. tuberculosis was particularly high among previously treated patients. Xpert MTB/RIF can be employed in urban district health facilities not only to diagnose PTB in smear-positive patients, but also to detect rifampicin resistance with good sensitivity and specificity.


Assuntos
Farmacorresistência Bacteriana , Testes de Sensibilidade Microbiana/métodos , Mycobacterium tuberculosis/isolamento & purificação , Técnicas de Amplificação de Ácido Nucleico/métodos , Tuberculose Pulmonar/microbiologia , Adulto , Idoso , Antibióticos Antituberculose/uso terapêutico , Estudos Transversais , Feminino , Humanos , Malásia/epidemiologia , Masculino , Pessoa de Meia-Idade , Prevalência , Rifampina/uso terapêutico , Sensibilidade e Especificidade , Tuberculose Pulmonar/tratamento farmacológico , Tuberculose Pulmonar/epidemiologia , Serviços Urbanos de Saúde
10.
Malays J Pathol ; 40(3): 295-302, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30580360

RESUMO

INTRODUCTION: Infant hepatitis B vaccination was introduced into the Expanded Programme on Immunisation (EPI) in Malaysia in 1989. This study aimed to investigate seroprevalence of hepatitis B among UKM pre-clinical medical students, born between 1991 and 1995, and had their infant vaccination more than 20 years ago. MATERIALS AND METHODS: A prospective, cross-sectional study involving 352 students, comprising 109 (31.0%) males and 243 (69.0%) females. Blood specimens were tested for anti-HBs, where levels of ≥10 mIU/mL was considered reactive and protective. Students with non-reactive levels were given a 20 µg HBV vaccine booster. Anti-HBs levels were tested six weeks after the first booster dose. Those with anti-HBs <10 mIU/mL were then given another two booster doses, at least one month apart. Anti-HBs levels were tested six weeks after the third dose. RESULTS: Ninety-seven students (27.6%) had anti-HBs ranging from 10 to >1000 mIU/mL while 255 (72.4%) had anti-HBs <10 mIU/mL. After one booster dose, 208 (59.1%) mounted anti-HBs ≥10 mIU/mL. Among the remaining 47 (13.3%), all except two students (0.6%) responded following completion of three vaccination doses. They were negative for HBsAg and anti-HBcore antibody, thus regarded as non-responders. CONCLUSIONS: Anti-HBs levels waned after 20 years post-vaccination, where more than 70% were within non-reactive levels. For healthcare workers, a booster dose followed by documenting anti-HBs levels of ≥10 mIU/mL may be recommended, to guide the management of post-exposure prophylaxis. Pre-booster anti-HBs testing may not be indicated. Serological surveillance is important in long-term assessment of HBV vaccination programs. No HBV carrier was detected.


Assuntos
Anticorpos Anti-Hepatite B/sangue , Estudantes de Medicina , Vacinação , Vacinas contra Hepatite Viral , Adulto , Estudos Transversais , Feminino , Humanos , Malásia , Masculino , Estudos Prospectivos , Estudos Soroepidemiológicos , Universidades
11.
Malays J Pathol ; 40(1): 69-72, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29704387

RESUMO

Pneumocystis pneumonia is an important human immunodeficiency virus (HIV)-associated opportunistic infection, and especially so in pregnant HIV-positive patients. We report a case of a 40-year-old woman in her first trimester of pregnancy who initially presented with acute gastroenteritis symptoms but due to a history of high-risk behaviour and the observation of oral thrush, she was worked up for HIV infection. Her retroviral status was positive and her CD4+ T cell count was only 8 cells/µL. She was also worked up for pneumocystis pneumonia due to the presence of mild resting tachypnoea and a notable drop in oxygen saturation (from 100% to 88%) following brief ambulation. Her chest radiograph revealed bilaterally symmetrical lower zone reticular opacities and Giemsa staining of her bronchoalveolar lavage (BAL) was negative for Pneumocystis jirovecii cysts. However, real-time P. jirovecii polymerase chain reaction (PCR) testing on the same BAL specimen revealed the presence of the organism. A course of oral co-trimoxazole plus prednisolone was commenced and her clinical condition improved.


Assuntos
Infecções por HIV/complicações , Hospedeiro Imunocomprometido , Pneumonia por Pneumocystis/imunologia , Complicações Infecciosas na Gravidez/imunologia , Adulto , Feminino , Humanos , Pneumocystis carinii , Gravidez
12.
Malays J Pathol ; 39(1): 25-31, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28413202

RESUMO

BACKGROUND: Chlamydia trachomatis and Neisseria gonorrhoeae are important bacterial pathogens of sexually transmitted infections (STIs) worldwide. This study sought to compare the analytical sensitivity and specificity of conventional methods against a rapid molecular method in detecting STIs caused by these bacteria. METHODS: Ninety five first-time male attendees of the Genito-urinary Medicine Clinic in Hospital Kuala Lumpur were included in this cross-sectional study. The detection of C. trachomatis was achieved through direct fluorescence antibody (DFA) staining of urethral swabs and real-time polymerase chain reaction testing (Xpert® CT/NG assay) on urine specimens. N. gonorrhoeae was detected through Gram staining and culture of urethral swabs and Xpert® CT/ NG assay on urine specimens. RESULTS: From the Xpert® CT/NG results, 11 (11.6%) attendees had chlamydia, 23 (24.2%) had gonorrhoea and 8 (8.4%) had both STIs. The sensitivity and specificity of DFA in detecting chlamydia compared to Xpert® CT/NG were 5.3% (95% CI: 0-28) and 94.7% (95% CI: 86-98), respectively. For gonorrhoea, the sensitivity and specificity of Gram staining were 90.3% (95% CI: 73-98) and 95.3% (86-99), respectively, whereas the sensitivity and specificity of culture compared to Xpert® CT/NG were 32.2% (95% CI: 17-51) and 100% (95% CI: 93-100), respectively. CONCLUSION: Although Gram-stained urethral swab smears are sensitive enough to be retained as a screening tool for gonorrhoea, culture as well as DFA lack sensitivity and are poorly suited to screen for gonorrhoea and chlamydia, respectively. However, owing to their high specificity, conventional detection methods are still suitable as confirmatory tests for gonorrhoea and chlamydia.


Assuntos
Chlamydia trachomatis/genética , Gonorreia/diagnóstico , Neisseria gonorrhoeae/genética , Infecções Sexualmente Transmissíveis/diagnóstico , Adolescente , Adulto , Infecções por Chlamydia/diagnóstico , Infecções por Chlamydia/virologia , Estudos Transversais , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase/métodos , Kit de Reagentes para Diagnóstico , Sensibilidade e Especificidade , Adulto Jovem
13.
Zhonghua Fu Chan Ke Za Zhi ; 51(7): 491-7, 2016 Jul 25.
Artigo em Chinês | MEDLINE | ID: mdl-27465867

RESUMO

OBJECTIVE: To investigate the efficacy and feasibility of preimplantation genetic diagnosis(PGD)with human leukocyte antigen(HLA)matching for beta-thalassemia. METHODS: A total of 43 referred beta-thalassemia couples, with at least on child in need of hematopoietic stem cell transplantation(HSCT), underwent PGD for HLA matching at the First Affiliated Hospital of Sun Yat-sen University from 2010 to 2015. PGD cycles of these couples were retrospectively analyzed, and 15 infants born from PGD-HLA were followed up. RESULTS: A total of 84 oocyte retrieval cycles were performed, providing 14±7 oocytes per cycle. Fifty nine embryos biopsied cycles were done, including 24 cleavage stage and 35 blastocyst stage biopsy cycles. In cleavage stage, 259 embryos were biopsied, 93.4%(242/259)of them with conclusive molecular diagnosis, and the percentage of unaffected embryos(normo-homozygote and heterozygote)was 71.4%(185/259). The percentage of HLA matched unaffected embryos was 9.3%(24/259). In blastocyst stage, 306 embryos were biopsied, while 93.8%(287/306)of them were conclusive, and the percentage of unaffected embryos was 70.6%(216/306). The percentage of HLA matched unaffected embryos in blastocyst stage biopsy was 14.4%(44/306), which was higher than in cleavage stage biopsy(P< 0.05). Forty three female carriers underwent 48 embryo transfer cycles including 3 fresh and 45 frozen-thawed embryo transfer cycles. Three fresh embryo transfer cycles were done after cleavage stage biopsy, resulted in a birth of healthy twins born at 36 weeks' gestation. All the embryos were frozen after blastocyst biopsied. Totally, 54 frozen-thawed embryos that were transferred in 45 frozen-thawed embryo transfer cycles included 25 embryo from cleavage stage biopsy and 29 embryo from blastocyst stage biopsy, and 42 of them were HLA matched. Clinical pregnancy rate and implantation rate per cycle in frozen-thawed embryo transfer were 38%(17/45)and 37%(20/54)respectively. A total of 15 infants were born, 2 were from a fresh embryo transfer cycle, and 13 were from frozen-thawed embryo transfer cycles. RESULTS of prenatal diagnosis from delivered cases were matched to that of PGD. Four sick children have been cured by HSCT from these HLA matched born siblings. CONCLUSION: PGD with HLA matching is an established method for conceiving a child who may donate hematopoietic stem cells to save an ill sibling.


Assuntos
Transferência Embrionária , Testes Genéticos/métodos , Antígenos HLA/imunologia , Diagnóstico Pré-Implantação , Talassemia beta/genética , Biópsia , Blastocisto , Implantação do Embrião , Feminino , Fertilização in vitro , Heterozigoto , Humanos , Masculino , Gravidez , Taxa de Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Gêmeos , Talassemia beta/diagnóstico
14.
Osteoarthritis Cartilage ; 22(1): 91-4, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24216057

RESUMO

OBJECTIVE: There is evidence to suggest vascular involvement in the initiation and progression of osteoarthritis (OA). The relationship between large artery characteristics and pathogenesis of OA has not been investigated and was the aim of this study. DESIGN: Large artery characteristics (i.e., aortic stiffness, brachial and central blood pressure (BP) variables) and bone marrow lesions (BMLs; measured by magnetic resonance imaging as a surrogate index of OA) were recorded in 208 participants (aged 63 ± 7 years; mean ± SD) with symptomatic knee OA. Relationships between large artery characteristics and BML were assessed by multiple regression adjusting for age, sex and body mass index. RESULTS: There was a high prevalence of BML presence in the study population (70%), but no significant difference between participants with and without BML for all large artery and BP variables (P > 0.05 all). Furthermore, there were no significant relationships between BML size and aortic stiffness (r = -0.033, P = 0.71), central pulse pressure (r = 0.028, P = 0.74), augmentation index (r = 0.125, P = 0.14), brachial pulse pressure (r = 0.005, P = 0.95) or brachial systolic BP (r = -0.066, P = 0.44). When participants were stratified according to high or low aortic stiffness, there was no significant difference between groups regarding the proportion of those with a BML (64% vs. 70% respectively; P = 0.69). CONCLUSIONS: Variables indicative of large artery characteristics are not significantly correlated with BML size or presence in people with symptomatic knee OA. Thus, large artery characteristics may not have a causative influence in the development of OA, but this needs to be confirmed in prospective studies.


Assuntos
Doenças da Medula Óssea/fisiopatologia , Osteoartrite do Joelho/fisiopatologia , Rigidez Vascular/fisiologia , Idoso , Pressão Sanguínea/fisiologia , Índice de Massa Corporal , Doenças da Medula Óssea/etiologia , Artéria Braquial/fisiopatologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Osteoartrite do Joelho/complicações , Análise de Onda de Pulso
15.
Zhonghua Er Ke Za Zhi ; 62(3): 256-261, 2024 Mar 02.
Artigo em Chinês | MEDLINE | ID: mdl-38378288

RESUMO

Objective: To summarize the clinical and prognostic features of children with opsoclonus-myoclonus-ataxia syndrome (OMAS). Methods: A total of 46 patients who met the diagnostic criteria of OMAS in the Department of Neurology, Beijing Children's Hospital from June 2015 to June 2023 were retrospectively analyzed. Centralized online consultations or telephone visits were conducted between June and August 2023. The data of the children during hospitalization and follow-up were collected, including clinical manifestations, assistant examination, treatment and prognosis. According to the presence or absence of tumor, the patients were divided into two groups. The chi-square test or Mann-Whitney U test was used to compare the differences between the two groups. Univariate Logistic regression was used to analyze the factors related to OMAS recurrence and prognosis. Results: There were 46 patients, with 25 males and the onset age of 1.5 (1.2, 2.4) years. Twenty-six (57%) patients were diagnosed with neuroblastoma during the course of the disease, and no patients were categorized into the high-risk group. A total of 36 patients (78%) were followed up for≥6 months, and all of them were treated with first-line therapy with glucocorticoids, gammaglobulin and (or) adrenocorticotrophic hormone. Among the 36 patients, 9 patients (25%) were treated with second-line therapy for ≥3 months, including rituximab or cyclophosphamide, and 17 patients (47%) received chemotherapy related to neuroblastoma. At the follow-up time of 4.2 (2.2, 5.5) years, 10 patients (28%) had relapsed of OMAS. The Mitchell and Pike OMS rating scale score at the final follow-up was 0.5 (0, 2.0). Seven patients (19%) were mildly cognitively behind their peers and 6 patients (17%) were severely behind. Only 1 patient had tumor recurrence during follow-up. The history of vaccination or infection before onset was more common in the non-tumor group than in the tumor group (55%(11/20) vs. 23%(6/26), χ²=4.95, P=0.026). Myoclonus occurred more frequently in the non-tumor group (40%(8/20) vs. 4%(1/26), χ²=7.23, P=0.007) as the onset symptom. Univariate Logistic regression analysis showed that the tumor group had less recurrence (OR=0.19 (0.04-0.93), P=0.041). The use of second-line therapy or chemotherapy within 6 months of the disease course had a better prognosis (OR=11.64 (1.27-106.72), P=0.030). Conclusions: OMAS in children mostly starts in early childhood, and about half are combined with neuroblastoma. Neuroblastoma in combination with OMAS usually has a low risk classification and good prognosis. When comparing patients with OMAS with and without tumors, the latter have a more common infection or vaccination triggers, and myoclonus, as the onset symptom, is more common. Early addition of second-line therapy is associated with better prognosis in OMAS.


Assuntos
Neuroblastoma , Transtornos da Motilidade Ocular , Síndrome de Opsoclonia-Mioclonia , Masculino , Criança , Humanos , Pré-Escolar , Prognóstico , Estudos Retrospectivos , Transtornos da Motilidade Ocular/complicações , Recidiva Local de Neoplasia , Síndrome de Opsoclonia-Mioclonia/diagnóstico , Síndrome de Opsoclonia-Mioclonia/tratamento farmacológico , Neuroblastoma/complicações , Neuroblastoma/diagnóstico , Neuroblastoma/terapia , Ataxia
16.
Pak J Med Sci ; 29(2): 666-8, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24353601

RESUMO

Burkholderia pseudomallei is an free-living gram-negative bacterium causing melioidosis and is endemic in Southeast Asia. A 56-year-old diabetic construction worker with a 1-month history of abdominal pain and 1-day history of high-grade fever was found to have a left non-dissecting infrarenal mycotic aortic aneurysm by abdominal computerized tomography scan. Bacteriological examination of his blood yielded Burkholderia pseudomallei. The patient was treated with right axillo-bifemoral bypass with excision of aneurysm and high-dose intravenous ceftazidime for two weeks, followed by oral trimethoprim/sulfamethoxazole and oral doxycycline for a minimum of five months.

17.
Trop Biomed ; 40(2): 170-173, 2023 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-37650403

RESUMO

Vibrio cholerae is a gram-negative bacterium synonymous with its namesake disease, cholera. Thus, gastrointestinal symptoms are the norm and V. cholerae is very rarely associated with skin and soft tissue infections. We describe a case of a 63-year-old Chinese woman with multiple medical comorbidities on corticosteroid therapy who developed fever and a painful swelling on her left leg after being pricked by a branch while gardening. There was no abdominal pain, vomiting or diarrhea. A diagnosis of bullous cellulitis was made clinically, and blood was sent for bacteriological culture. A beta-hemolytic commashaped gram-negative bacillus was isolated from the blood. It was also oxidase-positive and produced an acid/alkaline (A/K) reaction on triple sugar iron agar. It was identified biochemically as Vibrio cholerae. After additional testing, it was found to be of the O1 serogroup and Ogawa serotype. The infection resolved following a 10-day course of high-dose co-trimoxazole therapy.


Assuntos
Cólera , Vibrio cholerae O1 , Humanos , Feminino , Pessoa de Meia-Idade , Cólera/diagnóstico , Cólera/tratamento farmacológico , Celulite (Flegmão)/diagnóstico , Celulite (Flegmão)/tratamento farmacológico , Pele , Dor Abdominal
18.
Trop Biomed ; 40(1): 23-28, 2023 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37356000

RESUMO

Mycotic aneurysm is one of the extra-intestinal manifestations of Salmonella Enteritidis infection. The diagnosis of this condition is challenging owed to its variation in clinical presentations. We presented a case of a 54-year-old man with underlying diabetes mellitus and chronic smokers presented with acute right flank pain and fever associated with mild jaundice. The initial laboratory investigations suggested features of obstructive jaundice and urinary tract infection. The contrast enhancing computed tomography of the abdomen revealed the presence of saccular mycotic aneurysm located at the infrarenal abdominal aorta. The blood culture grew Salmonella Enteritidis which was susceptible to ceftriaxone, trimethoprim-sulfamethoxazole, ciprofloxacin, ampicillin, and amoxicillin-clavulanic acid. Intravenous ceftriaxone was initiated, and he underwent open surgery and artery repair at day 8 of admission. He responded well to the treatment given and subsequently discharged home after completed three weeks of intravenous ceftriaxone.


Assuntos
Aneurisma Infectado , Icterícia Obstrutiva , Infecções por Salmonella , Masculino , Humanos , Pessoa de Meia-Idade , Salmonella enteritidis , Aorta Abdominal/cirurgia , Aneurisma Infectado/complicações , Aneurisma Infectado/diagnóstico , Icterícia Obstrutiva/diagnóstico , Ceftriaxona/uso terapêutico , Infecções por Salmonella/complicações , Infecções por Salmonella/diagnóstico , Infecções por Salmonella/tratamento farmacológico , Abdome
19.
Trop Biomed ; 40(3): 290-294, 2023 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-37897160

RESUMO

Melioidosis is endemic in Southeast Asia, including Malaysia. Liver abscess is not uncommon in melioidosis, but it is usually associated with bacteremia. We presented a case of a 55-year-old gentleman with underlying end-stage renal failure who presented with non-specific abdominal pain for three months. Initial blood investigations showed leukocytosis and increased C-reactive protein. Computed tomography (CT) of the abdomen revealed multiple hypodense lesions in the liver and spleen. The culture of the liver specimen obtained through the ultrasound-guided isolated Burkholderia pseudomallei. He was given an adjusted dose of intravenous ceftazidime due to underlying renal failure. Melioidosis serology also returned positive for IgM with titer >1:1280. His blood cultures were reported negative three times. Despite on antibiotics for five weeks, there was no significant improvement of the liver abscesses was observed. He was unfortunately infected with the SARS-CoV-2 virus during his admission and passed away due to severe COVID-19 pneumonia.


Assuntos
Bacteriemia , Burkholderia pseudomallei , Abscesso Hepático , Melioidose , Masculino , Humanos , Pessoa de Meia-Idade , Melioidose/diagnóstico , Melioidose/tratamento farmacológico , Melioidose/complicações , Malásia , Antibacterianos/uso terapêutico , Abscesso Hepático/tratamento farmacológico , Abscesso Hepático/complicações , Hospitais de Ensino , Bacteriemia/complicações , Bacteriemia/tratamento farmacológico
20.
Zhonghua Er Ke Za Zhi ; 60(3): 232-236, 2022 Mar 02.
Artigo em Chinês | MEDLINE | ID: mdl-35240744

RESUMO

Objective: To analyse the clinical and gene characteristics of GRIN2B gene related neurological developmental disorders in children. Methods: The data of 11 children with GRIN2B gene related neurological developmental disorders from November 2016 to February 2021 were collected from Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health and analyzed retrospectively. The clinical features, electroencephalogram (EEG), brain imaging and gene testing results were summarized. Results: Among 11 children 6 were boys and 5 were girls. Two of them were diagnosed with developmental and epileptic encephalopathy. The ages of seizures onset were 3 months and 9 months, respectively. Seizure types included epileptic spasm, tonic seizures, tonic spasm and focal seizures, and 1 patient also had startle attacks. EEG showed interictal multifocal epileptiform discharges. Both of them were added with more than 2 anti-seizure drugs, which were partially effective but could not control. They had moderate to severe mental and motor retardation. The phenotype of 9 cases was developmental delay or intellectual disability without epilepsy, age of visit 1 year to 6 year and 4 months of whom 5 cases had severe developmental delay, 2 cases had moderate and 2 cases had mild delay. Multi-focal epileptiform discharges were observed in 3 cases, no abnormality was found in 3 cases, and the remaining 3 cases did not undergo EEG examination. Ten cases underwent brain magnetic resonance imaging (MRI), 6 cases had nonspecific abnormalities and 4 cases were normal. Nine GRIN2B gene heterozygous variants were detected by next-generation sequencing in these 11 patients, 8 cases had missense variants and 1 case had nonsense variant, all of which were de novo and 3 of which were novel. Missense variants were found in 10 patients, among them 6 cases had severe developmental delay, 3 cases had moderate and 1 case had mild developmental delay, but the patient with nonsense variant showed mild developmental delay without epilepsy. Conclusions: The phenotypes of GRIN2B gene related neurological developmental disorders in children are diverse, ranging from mild intellectual impairment without epilepsy to severe epileptic encephalopathy. Patients with epileptic phenotype usually have an onset age of infancy, and spasm and focal seizures are the most common seizure types. And the epiletice episodes are refractory. Most of the patients with missense variants had severe developmental delay.


Assuntos
Epilepsia , Espasmos Infantis , Criança , Deficiências do Desenvolvimento/genética , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/genética , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Convulsões/genética , Espasmos Infantis/genética
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