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1.
Cureus ; 16(8): e67096, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39290944

RESUMEN

ABO discrepancies in plasma cell myeloma (PCM) present unique challenges in blood typing tests and transfusion management. We present the case of a 51-year-old male with PCM who exhibited discrepancies between forward and reverse blood grouping. Further investigation revealed that the patient's blood type was a variant of blood group B. While type III discrepancies, typically characterized by elevated globulin levels causing false-positive reactions in both forward and reverse blood grouping, are common in multiple myeloma, our case differed due to the loss of B antigens secondary to the malignant condition. This caused a discrepancy in forward blood grouping. The rarity of ABO discrepancies in multiple myeloma underscores the importance of thorough evaluation. Awareness of potential antigen alterations in such patients is crucial to ensure safe transfusion practices.

2.
Arch Dermatol Res ; 316(9): 624, 2024 Sep 14.
Artículo en Inglés | MEDLINE | ID: mdl-39276265

RESUMEN

Scabies is a contagious skin condition caused by the Sarcoptes scabiei mite. It can lead to various clinical reactions, ranging from no symptoms at all to noticeable skin lesions and severe itching within the same household. We aimed to investigate the potential role of blood groups in the emergence of disease symptoms by comparing the scabies patients with asymptomatic co-residents. This study comprised 102 patients infected with scabies from index cases and 111 asymptomatic co-residents. The index cases where symptoms first appeared were excluded. Among patients with scabies, 34 individuals (33.3%) had type A blood group, 12 (11.8%) had type B, 27 (26.5%) had type AB, and 29 (28.4%) had type O. Of these patients, 101 (99%) were Rh+, while 1 (1%) was Rh-. In asymptomatic contacts, 61 individuals (55%) had type A, 9 (8.1%) had type B, 1 (0.9%) had type AB, and 40 (36%) had type O blood group. Of these, 102 (91.9%) were Rh+, and 9 (8.1%) were Rh-. A significant difference was observed between the two groups concerning the frequency of ABO, Rh, and ABO*Rh blood groups (p < 0.05). The prevalence of B + and AB + blood groups was higher in scabies patients compared to asymptomatic contacts. The study results showed a significant association between the emergence of scabies symptoms with blood groups. Our results highlight the importance of more research into the roles of blood group antigens in normal skin epithelium and their involvement in the etiopathogenesis of scabies.


Asunto(s)
Sistema del Grupo Sanguíneo ABO , Sistema del Grupo Sanguíneo Rh-Hr , Escabiosis , Humanos , Escabiosis/epidemiología , Escabiosis/sangre , Escabiosis/diagnóstico , Estudios Transversales , Masculino , Femenino , Adulto , Sarcoptes scabiei , Persona de Mediana Edad , Adolescente , Niño , Adulto Joven , Preescolar , Animales , Anciano
3.
Wiad Lek ; 77(7): 1377-1386, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39241136

RESUMEN

OBJECTIVE: Aim: To find any association between specific ABO blood groups and FUT2 secretory status and COVID-19 in a sample of Iraqi dentists. PATIENTS AND METHODS: Materials and Methods: For each participant, a questionnaire including demography, COVID-19 status, blood grouping, and RH factor, with chemo-sensitive symptoms was recorded. The saliva samples were collected and DNA was extracted from leukocytes. Sequencing of molecular detection of the FUT2 gene by real-time PCR and the data was done, whilst drawing the phylogenetic tree. RESULTS: Results: Out of 133, most of the dentists were female 61%, most were just under 35 years of age. The most participants in this study were predominantly with blood group O (40%), followed by B, A, and AB, with (90%) of them were RH+. All blood grouping and RH factor were high significantly associated with COVID-19 infection and its frequency (p<0.001). A significant association between smell dysfunction and infected blood group A and RH+ (p =0.044, 0.038) while taste dysfunction was negatively and significantly correlated with AB group (r=-0.73; p=0.008). The FUT2 secretor showed a significant association with COVID-19 infection and frequency. The majority of COVID-19-infected participants experienced a significant loss of both smell and taste with fast recovery within 2 weeks. CONCLUSION: Conclusions: The COVID-19 infection susceptibility and reinfection are associated with FUT2 secretory status and greatly associated to olfactory and gustatory sense loss.


Asunto(s)
COVID-19 , Odontólogos , Fucosiltransferasas , Galactósido 2-alfa-L-Fucosiltransferasa , SARS-CoV-2 , Adulto , Femenino , Humanos , Masculino , Sistema del Grupo Sanguíneo ABO/genética , COVID-19/genética , COVID-19/epidemiología , Odontólogos/estadística & datos numéricos , Fucosiltransferasas/genética , Irak/epidemiología , Saliva/virología , SARS-CoV-2/genética
4.
Artículo en Inglés | MEDLINE | ID: mdl-39270707

RESUMEN

The present work provides insight into the structural, vibrational, and elastic properties of scheelite-type alkali-metal perrhenates AReO4 (A = Na, K, Rb, Cs) from first-principles calculations. Sodium, potassium, and rubidium perrhenates are isostructural and crystallize in a tetragonal structure whereas caesium perrhenate crystallizes in an orthorhombic structure. All phonon frequencies and their corresponding mode assignments were estimated, through the linear response method within density-functional-perturbation theory. The phonon density of states highlights the predominant participation of the oxygen anions and both the A-type and rhenium (Re) cations in the low-frequency range. In contrast, oxygen and Re atoms exhibit higher and moderate contributions to the remaining phonon frequency spectrum. Considerable splitting of the longitudinal and traverse optic modes was observed. Elastic constants and phonon dispersion calculations confirm the mechanical and dynamical stability of all the studied AReO4 compounds. A redshift was observed due in the frequency of the phonons following the sequence Na→Cs. The calculated low bulk modulus (ranging from 28.36 GPa to 14.15 GPa) and shear modulus values indicate a low resistance to deformation of the perrhenates. The values of these moduli decrease in the order of Na→Cs which is associated with the increase in the ionic radius of the anion. The response to pressure was found to be anisotropic. This characteristic and the ductile nature of the alkali-metal perrhenates, were confirmed through an elastic analysis. .

5.
Nephrology (Carlton) ; 2024 Sep 08.
Artículo en Inglés | MEDLINE | ID: mdl-39245449

RESUMEN

AIM: In India, 85% of organ donations are from living donors and 15% are from deceased donors. One-third of living donors were rejected because of ABO or HLA incompatibility. Kidney exchange transplantation (KET) is a cost-effective and legal strategy to increase living donor kidney transplantation (LDKT) by 25%-35%. METHODS: We report our experience with 539 KET cases and the evolution of a single-centre program to increase the use of LDKT. RESULTS: Between January 2000 and 13 March, 2024, 1382 deceased donor kidney transplantations and 5346 LDKT were performed at our centre, including 10% (n = 539) from KET. Of the 539 KET, 80.9% (n = 436) were ABO incompatible pairs, 11.1% (n = 60) were compatible pairs, and 8% (n = 43) were sensitized pairs. There were 75% 2-way (n = 2 × 202 = 404), 16.2% 3-way (n = 3 × 29 = 87), 3% 4-way (n = 4 × 4 = 16), 1.8% 5-way (n = 5 × 2 = 10), 2.2% 6-way (n = 6 × 2 = 12), and 1.8% 10-way KET (n = 10 × 1 = 10). Of the recipients 81.2% (n = 438) were male and 18.8% (n = 101) were female, while of the donors, 78.5% (n = 423) were female and 21.5% (n = 116) were male. All donors were near relatives; wives (54%, n = 291) and mothers (20%, n = 108) were the most common donors. At a median follow-up of 8.2 years, patient survival, death censored graft survival, acute rejection, and median serum creatinine levels of functioning grafts were 81.63% (n = 440), 91% (n = 494), 9.8% (n = 53) and 1.3 mg/dL respectively. We credited the success to maintaining a registry of incompatible pairs, high-volume LDKT programs, non-anonymous allocation and teamwork. CONCLUSION: This is the largest single-centre KET program in Asia. We report the challenges and solutions to replicate our success in other KET programs.

6.
Front Transplant ; 3: 1463325, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39253021

RESUMEN

Passenger lymphocyte syndrome (PLS) is most commonly observed after solid organ transplantation with minor ABO blood group incompatibility. It consists of a set of clinical symptoms brought on by the remaining lymphocytes of the donor organ developing antibodies against the recipient's antigens. Here, we describe a typical case of PLS in a type A+ recipient receiving a liver transplant from a type O+ donor. She suffered from jaundice, abnormally decreased hemoglobin level, and severe hemolytic anemia without bleeding. During hemolysis, we detected a positive direct antiglobulin test (DAT), and the thermal elution test revealed the presence of IgG anti-A antibodies in her serum. When immunosuppressive agents and blood transfusion were used together, cross-matched O+ washing red blood cells led to an expected outcome without side effects.

7.
J Formos Med Assoc ; 2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39256062

RESUMEN

BACKGROUND: Mutations of ABO gene may cause the dysfunction of ABO glycosyltransferase (GT) that can result in weak ABO phenotypes. Here, we identified two novel weak ABO subgroup alleles and explored the mechanism that caused Ax phenotype. MATERIALS AND METHODS: The ABO phenotyping and genotyping were performed by serological studies and direct DNA sequencing of ABO gene. The role of the mutations was evaluated by 3D model, predicting protein structure changes, and in vitro expression assay. The total glycosyltransferase transfer capacity in supernatant of transfected cells was examined. RESULTS: The results of serological showed the subject RJ23 and RJ52 both were Ax phenotypes. The novel A alleles, Avar-1 and Avar-2 were identified according to the gene analysis. Both Avar-1 and Avar-2 harbored recombinant heterozygous alleles, specifically A2.05 and O.01.02. These alleles showcased substitutions at positions c.106G > T, c.189C > T, c.220C > T, and c.1009A > G in their respective exons. It is worth noting that the crossing-over regions of these two alleles differed from each other. In vitro expression study showed that GTA mutant impaired H to A antigen conversion, and the mutant did not affect the production of GTA though the Western bolt. In silico analysis showed that GTA mutant may change the local conformation and the stability of GT. CONCLUSIONS: The Avar-1 and Avar-2 alleles were identified, which could cause the Ax phenotype through changing the local conformation and reducing stability of the GTA.

8.
Pediatr Transplant ; 28(6): e14840, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39117576

RESUMEN

BACKGROUND: Live donor kidney transplantation is considered the optimal choice for renal replacement therapy, providing established benefits, such as superior patient survival and improved quality of life. However, immunological challenges, including ABO blood group incompatibility and, particularly, donor-specific HLA antibodies, may impact long-term outcomes considerably or even prevent safe direct transplantation with the intended donor. METHODS: In this review, the authors discuss kidney paired donation (KPD) as a viable strategy to overcome immunological barriers to living donation through organ exchanges. We thereby lay special focus on the Czech-Austrian transnational KPD program. RESULTS: While the benefits of KPD programs are well established for adult recipients, recent data suggest that this may hold true also for pediatric patients. Complex algorithms, considering factors like the intricate patterns of HLA sensitization, play a pivotal role in predicting suitable matches, but for pediatric patients also non-immunological factors including age and weight match may play a role. As pool size proves crucial for program efficacy, several countries in Europe have now initiated transnational collaborations to maximize match rates. Among those, the Czech-Austrian transnational joint program, established in 2015 and now expanded to a cooperation with the Israel transplant program to further increase transplant rates, represents a successful example. CONCLUSION: KPD programs, with their innovative approaches and international partnerships, hold promise for enhancing outcomes and addressing the increasing demand for kidney transplantation.


Asunto(s)
Trasplante de Riñón , Donadores Vivos , Obtención de Tejidos y Órganos , Humanos , Niño , Adulto , Europa (Continente) , Antígenos HLA/inmunología , República Checa
9.
Transfus Med ; 2024 Aug 09.
Artículo en Inglés | MEDLINE | ID: mdl-39119700

RESUMEN

BACKGROUND AND OBJECTIVES: The storage temperature of immunohaematological reagents generally ranges from 2 to 8°C, and they should be utilised at room temperature. This study aimed to analyse the stability of immunohaematological reagents used in ABO and RhD typing. METHODS: The evaluation encompassed the potency, specificity, and integrity of anti-A, anti-B, anti-D, RhD control sera, and A1 and B red blood cells (RBC) reagents after long (8 h) and short (4 h) daily periods of exposure to room temperature (20-24°C), 5 days a week for 4 weeks. Additionally, the A1 and B RBC reagents were exposed daily for 11 h and 30 min at room temperature, including 30 more minutes at room temperature with simultaneous homogenisation through equipment. For the control, an aliquot of each reagent was constantly stored at refrigeration temperature, while another was exposed to room temperature for 12 h daily. Tests conducted included reaction intensity, titration, and avidity for antisera, reaction intensity, free haemoglobin determination, and electrical conductivity for the RBC reagents. RESULTS: The antisera maintained the reaction intensity. The titre and avidity of the antisera satisfied the minimum Brazilian requirements after different exposure periods. A higher free haemoglobin concentration was noted in the RBC reagents subjected to room temperature and simultaneous homogenisation, although this did not affect the potency and specificity. The electrical conductivity average of the RBC reagent remained consistent. CONCLUSION: The findings indicate that the immunohaematological reagents from a specific manufacturer are stable under the tested temperature, ensuring the quality of the results under these conditions.

10.
Clin Exp Nephrol ; 2024 Aug 07.
Artículo en Inglés | MEDLINE | ID: mdl-39110345

RESUMEN

BACKGROUND: Elevated serum alkaline phosphatase (ALP) levels are a risk factor for all-cause mortality in hemodialysis patients. Traditionally in Japan, ALP measurements were conducted using the JSCC method, which yields higher ALP measurement values than the IFCC method, mainly due to its increased sensitivity to intestinal ALP. METHODS: Serum total ALP levels before and after switching the assay method from JSCC to IFCC were compared among different blood types in 521 hemodialysis patients (Study 1). The association between ALP levels measured by the JSCC method and 7-year mortality was analyzed, including blood types and liver function parameters as covariates, in 510 hemodialysis patients (Study 2). RESULTS: ALP levels measured by the JSCC method were approximately three times higher than those measured by the IFCC method, with significant elevation in patients with blood types B and O compared to those with blood types A and AB. Similarly, ALP levels measured by the IFCC method were significantly higher in patients with blood types B and O compared to those with blood types A and AB (Study 1). The highest tertile of ALP levels showed a significantly increased risk of all-cause mortality, even after adjusting for patient background. However, this significance disappeared when serum liver function-related or inflammatory markers were included as covariates (Study 2). CONCLUSION: ALP levels measured by the JSCC method are associated with life prognosis, but caution should be exercised due to their elevation in patients with blood types B and O and in those with hepatic dysfunction or inflammation.

11.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 32(4): 1278-1283, 2024 Aug.
Artículo en Chino | MEDLINE | ID: mdl-39192431

RESUMEN

OBJECTIVE: To establish the absorption and elution test for relatively quantitive obtaining anti-A and anti-B blood group IgG antibodies in the plasma of O-type RhD-positive pregnant women. METHODS: 95 cases of the O-type RhD-positive pregnant women plasma samples were randomly selected for obtaining the IgG antibodies of anti-A and anti-B blood group, with absorption test under 37 ℃ and elution test under 56 ℃, and the IgG anti-A and anti-B antibody titers of plasma and elution were determined by the microcolumn gel anti-human globulin test. The differences and correlation between the titers of IgG antibodies in the eluent and plasma were compared and analyzed. RESULTS: After a logarithmic transformation (Log2), there was no statistically difference between IgG antibody anti-A difference value and anti-B difference value in the eluent and plasma (P >0.05). The titer of IgG antibody in the eluent was positively correlated with the titer of IgG antibody in the plasma (r =0.914). The linear equation for IgG antibody titers fitted by a scatter plot between the eluent and plasma was Y=-3.55+0.96X. CONCLUSION: The absorption and elution test can be used to obtain the anti-A and anti-B IgG antibodies in the plasma of O-type RhD-positive pregnant women, whose plasma origin IgG titer is greater than 8. Meanwhile, the acquisition of anti-A antibodies was as effective as anti-B antibodies at the same time, and the antibodies obtained are positive proportional to their respective concentrations in the plasma.


Asunto(s)
Sistema del Grupo Sanguíneo ABO , Inmunoglobulina G , Humanos , Inmunoglobulina G/sangre , Femenino , Embarazo , Sistema del Grupo Sanguíneo ABO/inmunología , Sistema del Grupo Sanguíneo Rh-Hr/inmunología
12.
Antibodies (Basel) ; 13(3)2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39189233

RESUMEN

We aimed to develop a novel method for measuring the complement-binding ability of anti-blood type antibodies (ab-Abs), the flow cytometry method for the complement C1q test (FCM-C1q) for detecting antibody-mediated rejection (AMR) caused by ab-Abs in ABO-incompatible kidney transplantation (ABOI-KTx). FCM-C1q distribution was surveyed in 44 healthy participants and 43 dialysis patients (Cohort A). The relationship between AMR and FCM-C1q levels was examined along with ab-Ab titers by the flow cytometry method for the IgG test (FCM-IgG) in 62 ABOI-KTx patients (Cohort B). FCM-IgG and C1q levels were significantly higher in type O participants than in A/B participants in Cohort A. There were minimal differences in the distribution of FCM-IgG and C1q between dialysis and healthy participants. Sixteen cases were suspected of acute rejections (ARs) in Cohort B, of whom nine had AR clinically. One patient with severe AMR was highly suspected of hyperacute rejection along with another patient with severe AMR. Their postoperative FCM-C1q and FCM-IgG levels were elevated. Another two patients showed high FCM-IgG and C1q levels before KTx, and these levels remained low after KTx with no or mild rejection. In conclusion, our results suggest that a high positivity rate for FCM-C1q may predict moderate to severe AMR caused by ab-Abs and poor prognosis in ABOI-KTx.

13.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 32(4): 1212-1216, 2024 Aug.
Artículo en Chino | MEDLINE | ID: mdl-39192422

RESUMEN

OBJECTIVE: Serological and molecular biology methods were used to identify the blood type of a patient with forward and reverse ABO typing inconsistency, and to explore the genetic characteristics of this blood type. METHODS: The ABO phenotype of the proband was identified by tube method, and the ABO blood group genotype of the proband and her parents was determined by fluorescent PCR. The 7 exons of the ABO gene were directly sequenced and analyzed. RESULTS: According to preliminary serological identification, the ABO phenotype of this patient was Bel subtype. Genotyping tests showed that the ABO genotype of the proband and her father was B/O1 , and her mother was O1/O1. Sequencing of exons revealed novel heterozygous variations in exon 1: c.16_17delinsTGTTGCA. CONCLUSION: The Novel variations in exon 1 led to Bel subtype in the ABO blood group of the proband, and these variations are heritable.


Asunto(s)
Sistema del Grupo Sanguíneo ABO , Exones , Genotipo , Humanos , Sistema del Grupo Sanguíneo ABO/genética , Femenino , Tipificación y Pruebas Cruzadas Sanguíneas , Fenotipo , Variación Genética , Heterocigoto
14.
J Oral Maxillofac Pathol ; 28(2): 205-210, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39157833

RESUMEN

Background: The global outbreak of coronavirus disease 2019 (COVID-19) presents numerous obstacles for healthcare professionals. The present study aimed to evaluate and compare the role of serum biomarkers like- C-reactive protein (CRP), interleukin-6 (IL-6), and D-dimers in the severity of COVID-19 infection. Methodology: A cross-sectional, observational retrospective pilot study was conducted in Udaipur, Rajasthan, wherein data was collected from 250 subjects, out of which, data of 100 subjects were included as per the inclusion criteria. The data was recorded retrospectively among the health professionals via Google Forms in Udaipur, Rajasthan. Results: There were 1 (1%), 3 (3%), 31 (31%) and 65 (65%) participants with minor elevation (0.3-1.0), moderate elevation (1-10), marked elevation (10-50) and severe elevation (>50) of CRP respectively. The difference between the groups was statistically highly significant with a significantly higher number of study participants with a severe elevation of CRP levels (χ2 = 107.84, P < 0.001). The results showed that there was a significant difference between the groups with IL6 in 0-7 range while 96 (96%) study participants had >7 IL6, and the difference was statistically highly significant (2 = 84.640, P 0.001). Conclusion: In conclusion, the existing body of research indicates a discernible correlation between COVID-19 infection and the fluctuation of biomarker levels. This supplement has the potential to be utilised in clinical practice as a means of informing treatment decisions and determining the necessity of admission to the intensive care unit (ICU).

15.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 55(4): 932-938, 2024 Jul 20.
Artículo en Chino | MEDLINE | ID: mdl-39170012

RESUMEN

Objective: Congenital cleft lip and palate is a common birth defect that seriously affects the lives of the afflicted children and their families. Previously, no research has been done to investigate the pathogenic characteristics of cleft lip and palate among ethnic minorities, for example, Tibetans, a minority ethnic group with a large population in China. This study aims to investigate the relationship between the occurrence of cleft lip and palate in Tibetans and Han Chinese in western China and the distribution of ABO blood groups and Rh blood groups to provide a theoretical basis for the precise prevention and treatment of cleft lip and palate. Methods: In this study, statistics on Tibetan patients with cleft lip and palate, some Han patients with cleft lip and palate, and normal controls from western China were retrospectively collected. All participants were patients from West China Stomatology Hospital, Sichuan University. All patients with cleft lip and palate received treatment at the hospital between January 2016 and September 2023. The normal controls were outpatients or inpatients who did not have cleft lip and palate, and who received treatment at the hospital between January 2020 and October 2023. Information on the A, B, O, and AB blood groups and Rh positive and negative blood groups of the patients was collected and compared with that of the normal controls. The incidence of different phenotypes, including cleft lip alone, cleft palate alone, and cleft lip with cleft palate, in patients of blood groups A, B, O and AB were statistically analyzed by Chi-square test. Results: A total of 1227 Tibetan patients with cleft lip and palate, 4064 Han patients with cleft lip and palate, and 5360 normal controls were included in the study. Among all the patients with cleft lip and palate, 1863 had cleft lip alone, 1425 had cleft palate alone, and 2003 had cleft lip with cleft palate. The ABO blood group distribution of Tibetan patients with cleft lip and palate was characterized as O>B>A>AB, with Rh positive blood group accounting for 100%, blood type O accounting for 41.15%, and blood type B accounting for 30.64%. The blood group distribution of the Han patients with cleft lip and palate was characterized as O>A>B>AB, with Rh positive blood group accounting for 99.58%, blood type O accounting for 35.78%, and type A accounting for 30.54%. There was a significant difference in ABO blood groups between Tibetan and Han patients with cleft lip and palate (P<0.005), but no significant difference in Rh blood groups. The ABO blood group distribution of the Tibetan patients with cleft lip and palate showed an obvious difference from that of the control group, while those of the Han patients with cleft lip and cleft palate and the control group did not show obvious differences. In the analysis of the subtypes, it was found that the blood group distribution in the subtypes of cleft lip alone, cleft palate alone, and cleft lip with cleft palate in the Tibetan population was O>B>A>AB, while that in the Han Chinese population was O>A>B>AB. There were differences in blood group distribution between Tibetans and Hans of the subtypes of cleft lip alone and cleft lip with cleft palate (P<0.001), but there was no difference in blood group distribution in the population of cleft palate-only subtype. The proportion of blood type O in Tibetan patients with cleft lip and palate was significantly higher than that in the Han patients with cleft lip and palate. The blood group distribution of Tibetan patients with cleft lip and palate in Sichuan Province, Xizang Autonomous Region, and Qinghai Province was always O>B>A>AB. Tibetan patients from Shiqu County and Baiyu County, Ganzi Tibetan Autonomous Prefecture and Chaya County, Qamdo City were predominantly of blood type B, and those from other regions were mainly of blood type O. Conclusion: There were significant differences in the phenotype composition and ABO blood group distribution between the Tibetan and Han populations with cleft lip and palate in western China. The distribution of blood group O in the population with cleft lip and palate was higher than that in the normal population, and the same trend was observed for different phenotypes. However, differences between Tibetan and Han populations in ABO blood group distribution were only found in the phenotypes of cleft lip only and cleft lip with palate. Tibetans with blood type O are more prone to cleft lip deformity than Han people, and the effect in the phenotype of cleft lip with palate is less pronounced than that in the phenotype of cleft lip only.


Asunto(s)
Sistema del Grupo Sanguíneo ABO , Labio Leporino , Fisura del Paladar , Sistema del Grupo Sanguíneo Rh-Hr , Centros de Atención Terciaria , Humanos , Labio Leporino/sangre , Fisura del Paladar/sangre , Tibet/epidemiología , China/epidemiología , Estudios Retrospectivos , Centros de Atención Terciaria/estadística & datos numéricos , Femenino , Masculino , Etnicidad , Pueblo Asiatico , Niño
16.
Vox Sang ; 2024 Aug 13.
Artículo en Inglés | MEDLINE | ID: mdl-39137927

RESUMEN

BACKGROUND AND OBJECTIVES: Recently, third-generation long-read sequencing technology has been increasingly applied to the detection of various blood group systems. Because of its long read length and use of single-molecule sequencing, it is capable of obtaining the sequences of blood group genes in their entirety as well as of distinguishing haplotypes. Therefore, here, we collected ABO blood group samples that were difficult to classify serologically and analysed the sequences of the coding regions of the ABO genes as well as the sequences upstream and downstream of the coding regions. MATERIALS AND METHODS: Samples with ABO antigen typing and reverse serum typing discrepancies were screened in a total of 21 patients. All samples were subjected to serological testing and preliminary ABO genotyping (polymerase chain reaction with sequence-specific primers [PCR-SSP]), followed by single-molecule real-time (SMRT) sequencing to obtain complete ABO gene sequences. PCR sequence-based typing (PCR-SBT) was performed to validate the results. RESULTS: Of the 21 samples, 15 had common ABO types, and 6 had rare ABO subtypes. One new allele, ABO*B.NEW (c.861C>T), and one allelic base recombination event was identified. Forty-two haplotype sequences were obtained via SMRT sequencing with intronic single-nucleotide variants (SNVs) specific to the ABO allele, and all of the exon region sequences were consistent with the PCR-SBT results. CONCLUSION: SMRT sequencing is capable of accurately obtaining complete ABO gene sequences, distinguishing haplotypes and identifying allelic recombination.

17.
Vox Sang ; 2024 Aug 20.
Artículo en Inglés | MEDLINE | ID: mdl-39164023

RESUMEN

BACKGROUND AND OBJECTIVES: Missense variants in exon 7 of the ABO gene can lead to the formation of cisAB alleles. These alleles encode glycosyltransferases (GTs) capable of synthesizing both A and B antigens. In this study, we report the discovery of a novel cisAB allele and characterize it at molecular, protein and serological levels. MATERIALS AND METHODS: Blood and DNA samples from the proband and seven relatives were examined using standard and modified ABO phenotyping, polymerase chain reaction-restriction fragment length polymorphism and ABO gene sequencing. We assessed the impact of the p.Leu324Ser variant on the protein structure of the mutant GT using bioinformatics tools. RESULTS: Molecular tests revealed a c.971T>C (p.Leu324Ser) variant in the ABO gene in five of the eight individuals. This variant results in a GT that produces more A antigens and fewer B antigens. Bioinformatics analysis suggests that the amino acid substitution (p.Leu324Ser) could potentially affect enzymatic activity and specificity of the GT. CONCLUSION: We identified a novel cisAB allele resulting from a c.971T>C variant in the ABO gene. This variant led to the expression of an ABweak phenotype.

19.
Perfusion ; : 2676591241268428, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39088864

RESUMEN

Intraoperative anti-A/B immunoadsorption (ABO-IA) was recently introduced for ABO-incompatible (ABOi) heart transplantation. Here we report the first case of a patient transplanted with ABO-IA, that was of an age and weight that required two ABO-IA columns run in parallel, to enable the reduction in antibody titres to a sufficiently low level in the time available during implantation of the donor organ.

20.
Malar J ; 23(1): 257, 2024 Aug 24.
Artículo en Inglés | MEDLINE | ID: mdl-39182094

RESUMEN

BACKGROUND: Plasmodium falciparum infection is associated with the human ABO blood group. However, there is a paucity of data on the role that ABO and Rhesus blood groups play in malaria clinical presentations. Therefore, the objective of this study was to assess the association of human ABO blood groups and the Rhesus blood (Rh) types with the severity of malaria. METHODS: This cross-sectional study was carried out at the Suhum Government Hospital in the Eastern region of Ghana. Conveniently, study participants with malaria, diagnosed by microscopy, were selected into the study. Subsequently, their ABO and Rh blood groups were determined (Accucare ABO/Rh monoclonal antibodies, Chennai, India). Malaria severity was assessed using the criteria for assessing severe malarial anaemia published by the World Health Organization. According to the criteria, severe malarial anaemia was classified as having haemoglobin (Hb) < 5 g/dL for children < 12 years and in patients ≥ 12 years, Hb level < 7 g/dL, with parasitaemia > 10,000/µL in both cases. Severe malarial anaemia was also classified as having plasma bilirubin > 50 µmol/L with parasitaemia ≥ 100,000/µL, for all ages. Chi square statistical analysis was used to test the association between the blood groups and the clinical or laboratory findings, while multivariate analysis was performed to identify which blood groups were more vulnerable to develop severe malarial anaemia. RESULTS: Of the total number of the study participants (n = 328), most of the patients had blood group O Rh positive (35.7%) while few of them had blood group AB Rh negative (2.1%). The types of Rhesus did not associate with malaria. However, compared to blood group O, the odds of developing severe malarial anaemia, in children < 12 years and in patients ≥ 12 years, were 16 times and 17.8 times higher among patients with blood group A, respectively. Furthermore, the odds of having bilirubin level > 50 µmol/L with parasitaemia ≥ 100,000 /µL was 10 times higher among patients with blood groups A and 2.6 times higher in patients with blood group B, compared to blood group O. Finally, in patients with blood group A majority (71.6%) of them developed high temperature (> 37.5 °C) while 43.3% of them vomited and had diarrhoea. However, pallor (group B = 46.2% vs group A = 37.3%), fever (group B = 84.6% vs group A = 79.1%) and nausea (group B = 46.2% vs group A = 25.4%) were more frequent in patients with blood group B than A. CONCLUSIONS: This study found that people with blood groups A and B were severely affected by malaria, with group A being the most vulnerable. It is recommended that blood group assessment be performed for all patients with malaria. Patients found to have blood group A or B must be promptly and efficiently managed to avoid the development of severe malaria anaemia.


Asunto(s)
Sistema del Grupo Sanguíneo ABO , Anemia , Malaria Falciparum , Sistema del Grupo Sanguíneo Rh-Hr , Humanos , Estudios Transversales , Masculino , Femenino , Preescolar , Niño , Ghana/epidemiología , Adulto , Malaria Falciparum/complicaciones , Malaria Falciparum/epidemiología , Malaria Falciparum/sangre , Anemia/etiología , Anemia/sangre , Anemia/epidemiología , Adolescente , Adulto Joven , Lactante , Persona de Mediana Edad , Anciano
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