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1.
Transplantation ; 2024 Sep 04.
Artículo en Inglés | MEDLINE | ID: mdl-39228015

RESUMEN

BACKGROUND: This study evaluates the clinical trends and impact of hepatitis C virus-positive (HCV+) donors on waitlist and posttransplant outcomes after heart transplantation. METHODS: The United Network for Organ Sharing registry was queried to identify adult waitlisted and transplanted patients from January 1, 2015, to December 31, 2022. In the waitlist analysis, the candidates were stratified into 2 cohorts based on whether they were willing to accept HCV+ donor offers. Waitlist outcomes included 1-y cumulative incidences of transplantation and death/delisting. In the posttransplant analysis, the recipients were stratified into 2 cohorts with and without HCV nucleic acid test (NAT)-positive donors. Outcomes included 1- and 4-y posttransplant survival. Propensity score-matching was performed. Risk adjustment was performed using multivariable Cox regression. RESULTS: During the study period, the number of centers using HCV NAT+ donors increased from 1 to 65 centers, along with the number of transplants. In the waitlist analysis, 26 648 waitlisted candidates were analyzed, and 4535 candidates (17%) were approved to accept HCV+ donors. Approval to accept HCV+ donors was associated with a higher likelihood of transplantation and a lower likelihood of death/delisting within 1 y of waitlisting. In the posttransplant analysis, 21 131 recipients were analyzed, and 997 recipients (4.7%) received HCV NAT+ hearts. The 1- and 4-y posttransplant survival were comparable between the recipients of HCV NAT+ and NAT- donors. Furthermore, the similar 1- and 4-y posttransplant survival persisted in the propensity score-matched comparison and multivariable Cox regression analysis. CONCLUSIONS: Utilization of HCV+ donors is rising. Heart transplants using HCV+ donors are associated with improved waitlist and comparable posttransplant outcomes.

2.
Sci Rep ; 14(1): 20401, 2024 09 02.
Artículo en Inglés | MEDLINE | ID: mdl-39223176

RESUMEN

Tuberculosis is a global public health concern. Earlier reports suggested the emergence of high rates of drug resistant tuberculosis in Egypt. This study included 102 isolates of Mycobacterium tuberculosis collected from two reference laboratories in Cairo and Alexandria. All clinical isolates were sub-cultured on Löwenstein-Jensen medium and analyzed using both BD BACTEC MGIT 960 SIRE Kit and standard diffusion disk assays to identify the antibiotic sensitivity profile. Extracted genomic DNA was subjected to whole genome sequencing (WGS) using Illumina platform. Isolates that belong to lineage 4 represented > 80%, while lineage 3 represented only 11% of the isolates. The percentage of drug resistance for the streptomycin, isoniazid, rifampicin and ethambutol were 31.0, 17.2, 19.5 and 20.7, respectively. Nearly 47.1% of the isolates were sensitive to the four anti-tuberculous drugs, while only one isolate was resistant to all four drugs. In addition, several new and known mutations were identified by WGS. High rates of drug resistance and new mutations were identified in our isolates. Tuberculosis control measures should focus on the spread of mono (S, I, R, E)- and double (S, E)-drug resistant strains present at higher rates throughout the whole Nile Delta, Egypt.


Asunto(s)
Antituberculosos , Pruebas de Sensibilidad Microbiana , Mycobacterium tuberculosis , Tuberculosis Resistente a Múltiples Medicamentos , Secuenciación Completa del Genoma , Mycobacterium tuberculosis/genética , Mycobacterium tuberculosis/efectos de los fármacos , Mycobacterium tuberculosis/aislamiento & purificación , Egipto/epidemiología , Humanos , Antituberculosos/farmacología , Secuenciación Completa del Genoma/métodos , Tuberculosis Resistente a Múltiples Medicamentos/microbiología , Tuberculosis Resistente a Múltiples Medicamentos/epidemiología , Mutación , Adulto , Genoma Bacteriano , Masculino , Femenino , Farmacorresistencia Bacteriana/genética , Farmacorresistencia Bacteriana Múltiple/genética , Isoniazida/farmacología , Variación Genética , Persona de Mediana Edad , Estreptomicina/farmacología
3.
Clin Transplant ; 38(8): e15422, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39115465

RESUMEN

BACKGROUND: This study evaluates the clinical trends, risk factors, and impact of waitlist blood transfusion on outcomes following isolated heart transplantation. METHODS: The UNOS registry was queried to identify adult recipients from January 1, 2014, to June 30, 2022. The recipients were stratified into two groups depending on whether they received a blood transfusion while on the waitlist. The incidence of waitlist transfusion was compared before and after the 2018 allocation policy change. The primary outcome was survival. Propensity score-matching was performed. Multivariable logistic regression was performed to identify predictors of waitlist transfusion. A sub-analysis was performed to evaluate the impact of waitlist time on waitlist transfusion. RESULTS: From the 21 926 recipients analyzed in this study, 4201 (19.2%) received waitlist transfusion. The incidence of waitlist transfusion was lower following the allocation policy change (14.3% vs. 23.7%, p < 0.001). The recipients with waitlist transfusion had significantly reduced 1-year posttransplant survival (88.8% vs. 91.9%, p < 0.001) compared to the recipients without waitlist transfusion in an unmatched comparison. However, in a propensity score-matched comparison, the two groups had similar 1-year survival (90.0% vs. 90.4%, p = 0.656). Multivariable analysis identified ECMO, Impella, and pretransplant dialysis as strong predictors of waitlist transfusion. In a sub-analysis, the odds of waitlist transfusion increased nonlinearly with longer waitlist time. CONCLUSION: There is a lower incidence of waitlist transfusion among transplant recipients under the 2018 allocation system. Waitlist transfusion is not an independent predictor of adverse posttransplant outcomes but rather a marker of the patient's clinical condition. ECMO, Impella, and pretransplant dialysis are strong predictors of waitlist transfusion.


Asunto(s)
Transfusión Sanguínea , Trasplante de Corazón , Sistema de Registros , Listas de Espera , Humanos , Masculino , Listas de Espera/mortalidad , Femenino , Trasplante de Corazón/efectos adversos , Trasplante de Corazón/mortalidad , Persona de Mediana Edad , Estudios de Seguimiento , Factores de Riesgo , Pronóstico , Tasa de Supervivencia , Transfusión Sanguínea/estadística & datos numéricos , Supervivencia de Injerto , Adulto , Estudios Retrospectivos
4.
ASAIO J ; 2024 Aug 19.
Artículo en Inglés | MEDLINE | ID: mdl-39150765

RESUMEN

Prior studies assessing the effects of Impella 5.5 support duration on posttransplant outcomes have been limited to single-center case reports and series. This study evaluates the impact of Impella 5.5 support duration on outcomes following heart transplantation using the United Network for Organ Sharing database. Adult heart transplant recipients who were directly bridged to primary isolated heart transplantation with Impella 5.5 were included. The cohort was stratified into two groups based on the duration of Impella support: less than or equal to 14 and greater than 14 days. The primary outcome was 90 day posttransplant survival. Propensity score matching was performed. Sub-analysis was conducted to evaluate the impact of greater than 30 days of Impella support on 90 day survival. Three hundred thirty-two recipients were analyzed. Of these, 212 recipients (63.9%) were directly bridged to heart transplantation with an Impella support duration of greater than 14 days. The two groups had comparable 90 day posttransplant survival and complication rates. The comparable posttransplant survival persisted in a propensity score-matched comparison. In the sub-analysis, Impella support duration of greater than or equal to 30 days did not adversely impact 90 day survival. This study demonstrates that extended duration of support with Impella 5.5 as a bridge to transplantation does not adversely impact posttransplant outcomes. Impella 5.5 is a safe and effective bridging modality to heart transplantation.

5.
Malays J Med Sci ; 31(3): 1-17, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38984245

RESUMEN

Mapping the distribution of medical specialists in the Ministry of Health (MOH) Malaysia facilities is expected to be more complex as the demand for specialty and subspecialty services increases in the future. A more robust and definitive gap analysis is needed to facilitate planning and resource allocation. The Medical Development Division developed a master list of framework of specialties, subspecialties and areas of interest, and Specialist Database Module in the Medical Programme Information System (MPIS) as tools to facilitate mapping of services. Relational database of specialists' location, facilities, workload, population profile and other relevant parameters were developed to provide data visualisation in specific dashboard. Needs versus supply ratio is proposed as one of parameters to visualise specialised medical services distribution by geographical localities.

6.
Am J Cardiovasc Dis ; 14(3): 172-179, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39021521

RESUMEN

BACKGROUND: PTSD leads to increased levels of stress hormones and dysregulation of the autonomic nervous system which may trigger cardiac events. The goal of this study is to evaluate any association between PTSD and the occurrence of STEMI and NSTEMI using a large database. METHOD: Using the Nationwide Inpatient Sample (NIS) and ICD-9 codes from 2005 to 2014 (n=1,621,382), we performed a univariate chi-square analysis of in-hospital occurrence of STEMI and NSTEMI in patients greater than 40 years of age with and without PTSD. We also performed a multivariate analysis adjusting for baseline characteristics including age, gender, diabetes, race, hyperlipidemia, hypertension, and tobacco use. RESULTS: The 2005-2014 dataset contained 401,485 STEMI patients (745, or 0.19%, with PTSD) and 1,219,897 NSTEMI patients (2,441, or 0.15%, with PTSD). In the 2005 dataset, 0.5% of PTSD patients had STEMI compared to 1.0% of non-PTSD patients (OR=0.46, 95% C.I., 0.36-0.59). Similarly, 0.6% of patients with PTSD and 2.2% of patients without PTSD had NSTEMI (OR=0.28, 95% C.I., 0.23-0.35). In the 2014 dataset, 0.3% of PTSD patients had STEMI compared to 0.7% of non-PTSD patients (OR=0.43, 95% C.I., 0.35-0.51). Similarly, 1.4% of patients with PTSD versus 2.9% of patients without PTSD had NSTEMI (OR=0.48, 95% C.I., 0.44-0.52). Similar trends were seen throughout the ten-year period. After adjusting for age, gender, diabetes, race, hyperlipidemia, hypertension, and tobacco use, PTSD was associated with a lower occurrence of STEMI (2005: OR=0.50, 95% C.I., 0.37-0.66; 2014: OR=0.35, 95% C.I., 0.29-0.43) and NSTEMI (2005: OR=0.44, 95% C.I., 0.34-0.57; 2014: OR=0.63, 95% C.I., 0.58-0.69). CONCLUSION: Using a large inpatient database, we did not find an increased occurrence of STEMI or NSTEMI in patients diagnosed with PTSD, suggesting that PTSD is not an independent risk factor for myocardial infarction.

8.
Am J Cardiovasc Dis ; 14(2): 116-120, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38764546

RESUMEN

Colchicine is one of the established drugs of choice for post-myocardial infarction (MI) induced pericarditis, given its anti-inflammatory properties. Recently, colchicine received FDA approval for secondary prevention of atherosclerotic cardiovascular disease, which leads to concerns regarding its anti-healing effects on myocardial tissue post-infarction. We present a case of a suspected colchicine-induced myocardial rupture in an elderly male, who presented with a syncopal episode while on colchicine three weeks after the late presentation of infero-posterior ST-elevation myocardial infarction.

9.
Urol Ann ; 16(2): 129-132, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38818432

RESUMEN

Introduction: We aimed to study whether using 30 W versus 60 W thulium enucleation of the prostate (ThuLEP) would affect postoperative outcomes in patients with benign prostatic hyperplasia (BPH). Materials and Methods: We prospectively identified male patients with moderate or severe lower urinary tract symptoms due to BPH. We randomized patients into 30 W (Group 1) or 60 W (Group 2) thulium yag laser with a 550 µm laser fiber and a 26 Fr continuous flow resectoscope. We collected data related to prostate size, enucleation time, morcellation time, laser time, perioperative complications, and 1-year functional outcomes. Results: A total of 120 patients were included, with a mean age of 67 years and a mean prostate size of 105 g. The preoperative characteristics were similar across both groups. The mean operative time was shorter in the 60 W group, 74 ± 27 vs. 91 ± 33 min in the 30 W group (P = 0.001), and the mean laser time was 55 ± 20 in 60 W versus 71 ± 25 in 30 W (P = 0.0001). The mean hospital stay was 1 day in both groups and at 1-year follow-up; there was a similar improvement in mean Qmax and International Prostate Symptom Score symptom scores. Discussion/Conclusion: Both 30 and 60 W ThuLEP provided a safe and comparable outcome with a relatively shorter operative time for the 60 W groups. Perhaps using a 30-W setting would be beneficial in the early learning curve or cases with more bleeding capsular perforators; besides, the financial benefit of manufacturing low-cost low-power devices that may help in the widespread of AEEP.

10.
ISA Trans ; 147: 439-452, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38350797

RESUMEN

The reliability of sensors and servos is paramount in diagnosing the Heavy-Legged Robot (HLR). Servo faults stemming from mechanical wear, environmental disturbances, or electrical issues pose significant challenges to traditional diagnostic methods, which rely heavily on delicate sensors. This study introduces a framework that solely relies on joint position and permanent magnet synchronous motor (PMSM) information to mitigate dependency on fragile sensors for servo-fault diagnosis. An essential contribution involves refining a model that directly connects PMSM currents to HLR motion. Moreover, to address scenarios where actual servo outputs and HLR cylinder velocities are unavailable, an improved sliding mode observer (ISMO) is proposed. Additionally, a Fourier expansion model characterizes the relationship between operation time and fault-free disturbance in the HLR. Subsequently, the dual-line particle filter (DPF) algorithm is employed to predict fault-free disturbance. The outputs of DPF serve as a feedforward to the ISMO, enabling the real-time servo torque fault diagnosis. The accuracy and validity of this technical framework are verified through various simulations in MATLAB/SIMSCAPE and real-world experiments.

11.
Gels ; 10(1)2024 Jan 20.
Artículo en Inglés | MEDLINE | ID: mdl-38275850

RESUMEN

Carbon nanotube-glue composite gel-based surface-type elastic sensors with a cylindrical shape deformable (flexible) metallic body were fabricated for tactile pressure and compressive displacement sensing. The fabrication of the sensors was performed using the rubbing-in technique. The effect of the pressure and the compressive displacement on the capacitance and the impedance of the sensors were investigated at various frequencies (in the range of 1 kHz to 200 kHz). It was found that under the effect of pressure from 0 to 9 g/cm2, the capacitance increased by 1.86 and 1.78 times, while the impedance decreased by 1.84 and 1.71 times at the frequencies of 1 kHz to 200 kHz, respectively. The effect of displacement on the impedance and the capacitance of the device was also investigated at various frequencies from 1 kHz to 200 kHz. The results showed that under the effect of compressive displacement up to 25 µm, the impedance of the sensors decreased on average by 1.19 times, while the capacitance increased by 1.09 times, accordingly. The frequency response of the displacement sensor showed that it matched with the low-pass filter. The obtained results are explained based on changes in the shape and geometrical parameters of the cylindrical-shaped conductive body. These results have also been explained on the basis of the distance between the conductive plates of the capacitive sensors during compression, which takes place under the effect of applied pressure or displacement. Moreover, the design of the sensors is simple and easy to fabricate, and their use is also earthy. The fabricated sensors have great potential for commercialization.

12.
Ther Adv Med Oncol ; 15: 17588359231212182, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38028146

RESUMEN

Background: Stage III non-small cell lung cancer (NSCLC) being highly heterogeneous requires multimodal therapeutic strategies for optimal management. We present findings on treatment patterns and their associated survival outcomes in patients with stage III NSCLC from the Egypt subset of the KINDLE global real-world study conducted across countries from Asia, Middle East, Africa, and Latin America. Method: Retrospective data from the Egypt subset (21 centers) of adult patients diagnosed with stage III NSCLC between January 2013 and December 2017 were analyzed. Descriptive and inferential statistics summarized treatment modalities, progression-free survival (PFS), and overall survival (OS). Results: Of 421 patients enrolled (median age: 59.0 years), 77.9% were males, 53.5% had stage IIIA disease, 60.8% had adenocarcinoma, 78.4% had an unresectable disease, and 81.5% had Eastern Cooperative Oncology Group performance status ⩽1. Overall, chemotherapy alone (40.4%) was predominantly used in the initial line, whereas definite radiotherapy was used in only 5.0% of patients. In resectable patients, chemotherapy plus surgery (33.8%), surgery alone (20.6%), or other surgery (20.6%) were the top three modalities used in initial line of treatment. Chemotherapy alone was most preferred (48.8%) in unresectable patients, followed by sequential chemoradiotherapy (CRT) (17.6%) and concurrent CRT (9.3%). The overall median PFS was 10.3 months [95% confidence interval (CI), 9.43-12.02], whereas the median OS was 18.5 months (95% CI, 16.46-21.88). Overall, female gender, adenocarcinoma histology, and radical therapy as surgery or CRT predicted significantly longer OS (all p < 0.05). Conclusion: KINDLE-Egypt cohort revealed wide heterogeneities in the treatment patterns of stage III NSCLC. Although deemed resectable, few patients did not undergo surgery, probably due to high smoking rates leading to poor lung function. Lower survival outcomes than other published real-world studies highlight the need for timely approval and availability of novel targeted and immunotherapies to enhance patient outcomes. Trial registration: NCT03725475.

13.
Medicine (Baltimore) ; 102(38): e35021, 2023 Sep 22.
Artículo en Inglés | MEDLINE | ID: mdl-37746949

RESUMEN

OBJECTIVE: Propofol is the most commonly used intravenous anesthetic medication and is most commonly associated with post-operative pain. Several drugs are investigated to reduce post-operative pain caused by propofol injection. Ondansetron is a potent anti-emetic drug showing promising results as an analgesic. This meta-analysis aims to compare the efficacy of ondansetron to placebo and lidocaine in reducing post-operative pain caused by propofol injection. METHODS: PubMed, Embase, Cochrane Library, Web of Science, and Scopus were searched for relevant randomized controlled trials (RCTs) till May 2022. We conducted a meta-analysis using RevMan software version 5.4, and we assessed the quality of included RCTs using the Cochrane risk of bias tool. RESULTS: In our study, we included 23 RCTs with 2957 participants. Compared to placebo, ondansetron significantly increased the rate of no pain [risk ratio (RR) = 2.36, 95% confidence interval (CI) (1.39-4.01)], and reduced moderate [RR = 0.39, 95% CI (0.30-0.52)] and severe pain [RR = 0.34, 95% CI (0.24-0.50)]. Furthermore, ondansetron significantly reduced PONV [RR = 0.73, 95% CI (0.58, 0.91)]. On the other hand, ondansetron showed an inferior efficacy to lidocaine regarding the incidence of no, moderate, and severe pain. CONCLUSION: Ondansetron is effective in reducing post-operative propofol-induced pain. However, lidocaine is more effective than it.


Asunto(s)
Propofol , Humanos , Propofol/efectos adversos , Lidocaína/uso terapéutico , Ondansetrón/uso terapéutico , Ensayos Clínicos Controlados Aleatorios como Asunto , Dolor Postoperatorio/tratamiento farmacológico , Dolor Postoperatorio/prevención & control
14.
J Med Case Rep ; 17(1): 244, 2023 Jun 02.
Artículo en Inglés | MEDLINE | ID: mdl-37264371

RESUMEN

BACKGROUND: Hyaline fibromatosis syndrome is a rare progressive autosomal recessive connective tissue disorder caused by a mutation in the ANTXR2/CMG2 gene. According to its severity, patients may present with skin nodules or visceral infiltration, which carries a poor prognosis. Hypercalcemia has not been reported as a presenting feature of this syndrome. Stimulation of osteoclasts by inflammatory factors and immobilization--induced hypercalcemia have played role in the pathophysiology. To our knowledge, this is the first report of hypercalcemia-associated hyaline fibromatosis syndrome. CASE PRESENTATION: Here, we describe cases of two Sudanese patients, a boy aged 9 months and a girl aged 3.5 years with hypercalcemia as an associated presenting feature of hyaline fibromatosis syndrome. Other features include gingival hypertrophy, painful joint swellings, and restriction of movement, which was misdiagnosed as juvenile rheumatoid arthritis. Workup showed normal phosphate, normal to mildly elevated parathyroid hormone, low vitamin D 25. Genetic testing confirmed the mutation of the ANTXR2/CMG2 gene. Both patients responded well to medical therapy for hypercalcemia, but one of them with the severe form of juvenile hyaline fibromatosis died due to sepsis, while the other one has maintained normocalcemic status. CONCLUSIONS: These cases highlight the rare presentation of this syndrome and reflect the importance of biopsy and genetic testing in reaching the diagnosis, especially when the clinical presentation can mimic other inflammatory bone disorders. Calcium levels should be checked in such cases.


Asunto(s)
Fibroma , Síndrome de Fibromatosis Hialina , Hipercalcemia , Masculino , Femenino , Humanos , Síndrome de Fibromatosis Hialina/complicaciones , Síndrome de Fibromatosis Hialina/diagnóstico , Síndrome de Fibromatosis Hialina/genética , Hipercalcemia/etiología , Hipercalcemia/genética , Síndrome , Diagnóstico Diferencial , Pruebas Genéticas , Fibroma/complicaciones , Fibroma/diagnóstico , Fibroma/genética , Receptores de Péptidos/genética
15.
Pan Afr Med J ; 44: 86, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37193101

RESUMEN

Introduction: literature on Hashimoto´s thyroiditis, the common thyroid illness in the young populations, in Sudan and Africa is scarce. We aimed to study its clinical profile and outcome among Sudanese children and adolescents. Methods: records of 73 patients were reviewed. Data related to demographics, presenting features, family history and coexistence of autoimmune diseases, physical examination findings, and biochemical progression over time were obtained. Results: patients´ mean age at the diagnosis was 10.6 ± 2.9 years, 80.8% (n = 59) of them were female and 83.6% (n = 61) were residing in iodine-sufficient areas. The commonest presenting features were thyromegaly and fatigability (79.5%, n = 58 and 43.8%, n = 32, respectively) after an illness duration of 0.5-48 months. Autoimmune comorbidities were documented in 8.2% (n = 6) of our series and more than half (53.4%, n = 39) of them were pre-pubertal at the diagnosis. Sixty point three percent (60.3%) (n = 44), 20.5% (n = 15), 13.7% (n = 10) and 5.5% (n = 4) of patients presented with overt hypothyroidism, sub-clinical hypothyroidism, euthyroidism and hyperthyroidism respectively, and there were no significant differences in the clinical profile between them. In patients' continued follow-up, 94.1% (n = 32/34) of those presented with overt hypothyroidism required levothyroxine therapy to maintain euthyroidism for 0.5-13 years, while 85.7% (n = 6/7) of those with euthyroidism remained so for 0.5-6 years. Remission was reported in all hyperthyroid patients and in only 5.9% (n = 2/34) of those with overt hypothyroidism at diagnosis. The majority of our patients with subclinical hypothyroidism were treated with levothyroxine and continued to be euthyroid for 10 months to 13 years. Conclusion: goiter was the commonest presenting feature of Hashimoto´s thyroiditis. The majority of patients had overt or subclinical hypothyroidism and almost all of them required long-term levothyroxine therapy.


Asunto(s)
Bocio , Enfermedad de Hashimoto , Hipertiroidismo , Hipotiroidismo , Adolescente , Humanos , Niño , Femenino , Masculino , Estudios Transversales , Tiroxina , Enfermedad de Hashimoto/diagnóstico , Enfermedad de Hashimoto/tratamiento farmacológico , Enfermedad de Hashimoto/epidemiología , Hipotiroidismo/diagnóstico , Hipotiroidismo/tratamiento farmacológico , Hipotiroidismo/epidemiología , Bocio/diagnóstico , Sudán/epidemiología
16.
Eur J Hum Genet ; 2023 Apr 03.
Artículo en Inglés | MEDLINE | ID: mdl-37012327

RESUMEN

Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of monogenic conditions that share common pathogenic mechanisms and include hereditary spastic paraplegia (HSP), cerebellar ataxia, and spinocerebellar ataxia. They are often complicated with axonal neuropathy and/or intellectual impairment and overlap with many neurological conditions, including neurodevelopmental disorders. More than 200 genes and loci inherited through all modes of Mendelian inheritance are known. Autosomal recessive inheritance predominates in consanguineous communities; however, autosomal dominant and X-linked inheritance can also occur. Sudan is inhabited by genetically diverse populations, yet it has high consanguinity rates. We used next-generation sequencing, genotyping, bioinformatics analysis, and candidate gene approaches to study 90 affected patients from 38 unrelated Sudanese families segregating multiple forms of SCDs. The age-at-onset in our cohort ranged from birth to 35 years; however, most patients manifested childhood-onset diseases (the mean and median ages at onset were 7.5 and 3 years, respectively). We reached the genetic diagnosis in 63% and possibly up to 73% of the studied families when considering variants of unknown significance. Combining the present data with our previous analysis of 25 Sudanese HSP families, the success rate reached 52-59% (31-35/59 families). In this article we report candidate variants in genes previously known to be associated with SCDs or other phenotypically related monogenic disorders. We also highlight the genetic and clinical heterogeneity of SCDs in Sudan, as we did not identify a major causative gene in our cohort, and the potential for discovering novel SCD genes in this population.

17.
Breast Cancer ; 30(2): 200-214, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36622565

RESUMEN

BACKGROUND: Breast cancer is the most prevalent cancer in women. In the past few years, surgical interventions for breast cancer have experienced massive changes from radical excision to conserving approaches. In this study, we aim to compare the two breast surgery interventions, including conventional breast-conserving surgery (CBCS) versus oncoplastic breast-conserving surgery (OPBCS). METHODS: We searched on PubMed, Web of Science (WOS), Scopus, Embase, and Cochrane till 2 October 2021. All relevant randomized controlled trials (RCTs) and observational studies were included. The data were extracted and pooled using Review Manager software (RevMan 5.4). RESULTS: The pooled meta-analysis of the included studies showed that OPBCS was significantly superior to CBCS in most of the outcomes. Re-excision significantly favoured CBCS (RR = 0.49, 95% CI [0.37, 0.63], P < 0.00001). However, local recurrence (RR = 0.55, 95% CI [0.27, 1.09], P = 0.09), close surgical margins (RR = 0.37, 95% CI [0.14, 1.00], P = 0.05) and end up to the risk of mastectomy (RR = 0.73, 95% CI [0.54, 97], P = 0.06) showed no significant difference between both techniques. Notably, while performing a sensitivity analysis, other outcomes as local recurrence, significantly showed favourable results towards OPBCS. In terms of safety outcomes, there was no significant difference between OPBCS and CBCS. CONCLUSION: We recommend the oncoplastic approach rather than the conventional one in females with breast cancer. Re-excision rates showed better results following OPBCS.


Asunto(s)
Neoplasias de la Mama , Mamoplastia , Femenino , Humanos , Neoplasias de la Mama/cirugía , Mastectomía Segmentaria/efectos adversos , Mastectomía Segmentaria/métodos , Estudios Retrospectivos , Mastectomía/métodos , Mamoplastia/métodos
18.
Sudan J Paediatr ; 23(2): 145-152, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38380412

RESUMEN

Central precocious puberty (CPP) is frequently seen among cases presenting to our endocrine clinics. The purpose of this study was to have base line data on this condition with an attempt to point out any possible unique features of Sudan and to explore challenges faced in management and how that cultural and traditional practices may hamper care. Here, we are reporting the first data on this aspect from Sudanese subjects. Patients labelled as having CPP in Gafaar Ibnauf Children's Hospital and Soba University Hospital Endocrinology Clinics from January 2006 to 2016 are included in a descriptive hospital-based study which was conducted over 10 years in these two main paediatric endocrinology centres. Records of all patients with CPP were reviewed and challenges in diagnosis and management were identified. Most of the children with CPP presented late. Organic causes were more frequent among girls than what has been reported in the literature; in most boys, it was idiopathic. Almost half of the patients with underlying pathology were older than 6 years of age. Most cases including girls have an organic cause, thus magnetic resonance image should be done in all patients. Management of precocious puberty in a resource-limited country is faced with various challenges (e.g., expensive investigations and medications). We suggest establishing a unified protocol for managing these cases and creating collaboration between governmental, nongovernmental organisations and health services.

19.
BMC Endocr Disord ; 22(1): 322, 2022 Dec 19.
Artículo en Inglés | MEDLINE | ID: mdl-36529731

RESUMEN

BACKGROUND: Juvenile primary hyperparathyroidism (PHPT) is a rare endocrine disease. Its diagnosis might be masked by clinical, biochemical, and radiological features of rickets. CASE PRESENTATION: A 12-year-old Sudanese boy presented with progressive lower limbs deformity and difficulty in walking for six months. It was associated with fatigability, poor appetite, and generalized bone pain. On examination, he was thin, disproportionately short and pubertal, and had bilateral genu valgum deformity. X-rays showed osteopenia and signs of rickets. Biochemical workup revealed mildly elevated serum calcium, low phosphate, high alkaline phosphatase, and high parathyroid hormone with low 25-hydroxy vitamin D3. Celiac screening, liver function test and renal profile were normal. Serum calcium rose dramatically after vitamin D therapy. Genetic testing was negative for CYP2R1 and MEN1 genes. Ultrasound neck showed left inferior parathyroid adenoma which was surgically excised. Histopathology confirmed the diagnosis of parathyroid adenoma. Postoperatively, he had hypocalcemia which was treated with calcium and alfacalcidol. Corrective surgery is planned for the genu valgum deformity which markedly improved after parathyroidectomy. CONCLUSION: Although PHPT is extremely rare in the young population, it should be considered in patients with rickets and elevated serum calcium at baseline or after initiating vitamin D therapy.


Asunto(s)
Adenoma , Genu Valgum , Hipercalcemia , Hiperparatiroidismo Primario , Neoplasias de las Paratiroides , Raquitismo , Masculino , Humanos , Adolescente , Niño , Neoplasias de las Paratiroides/complicaciones , Hiperparatiroidismo Primario/etiología , Hiperparatiroidismo Primario/genética , Calcio/uso terapéutico , Genu Valgum/complicaciones , Genu Valgum/cirugía , Adenoma/patología , Raquitismo/diagnóstico , Raquitismo/tratamiento farmacológico , Raquitismo/cirugía , Paratiroidectomía , Hormona Paratiroidea , Vitamina D , Hipercalcemia/complicaciones
20.
Metabolites ; 12(11)2022 Nov 20.
Artículo en Inglés | MEDLINE | ID: mdl-36422285

RESUMEN

Nature gives immense resources that are beneficial to humankind. The natural compounds present in plants provide primary nutritional values to our diet. Apart from food, plants also provide chemical compounds with therapeutic values. The importance of these plant secondary metabolites is increasing due to more studies revealing their beneficial properties in treating and managing various diseases and their symptoms. Among them, flavonoids are crucial secondary metabolite compounds present in most plants. Of the reported 8000 flavonoid compounds, luteolin is an essential dietary compound. This review discusses the source of the essential flavonoid luteolin in various plants and its biosynthesis. Furthermore, the potential health benefits of luteolins such as anti-cancer, anti-microbial, anti-inflammatory, antioxidant, and anti-diabetic effects and their mechanisms are discussed in detail. The activity of luteolin and its derivatives are diverse, as they help to prevent and control many diseases and their life-threatening effects. This review will enhance the knowledge and recent findings regarding luteolin and its therapeutic effects, which are certainly useful in potentially utilizing this natural metabolite.

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