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1.
Heliyon ; 10(3): e24939, 2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-38317898

RESUMO

The present study explores the use of local clay from the United Arab Emirates (UAE) to prepare porous ceramic membranes (flat disk shape) for the purpose of removing toxic heavy metals from contaminated water. Four distinct ceramic membranes, crafted from locally sourced clay and incorporated with activated carbon and graphite, underwent careful and thorough preparation. The initial set of membranes was subjected to open-air sintering, resulting in the creation of mACA and mGrA membranes. Concurrently, a second set of meticulously prepared membranes underwent sintering under inert nitrogen conditions, yielding the formation of mACI and mGrI membranes, respectively. Prior to making the membranes, the clay material was characterized by thermogravimetric analysis (TGA), X-ray fluorescence (XRF), Fourier-transform infrared spectroscopy (FTIR), and X-ray diffraction analysis (XRD). The clay presented the lowest weight loss compared to AC and Gr, implying that these two materials could be used as porogen agents. The X-ray fluorescence results indicated that the natural clay contained 65.5 wt% of silicon dioxide (SiO2), aluminium oxide (Al2O3), and iron (III) oxide (Fe2O3) falling within the class C category of clays according to ASTM. The FTIR analysis showed different clay regions allocated to various stretching and deformation vibrations of hydroxide, organic fraction, and (Si, Al, Fe)-O groups. The XRD analysis revealed the presence of kaolinite, illite, smectite and calcite phyllite phases in the clay mineral. The membranes were characterized using FESEM, with those containing AC (used as porogen) exhibiting large pores clearly visible on the surface, and were tested for the removal of lead (Pb2+) ions from synthetic wastewater. The removal efficiencies of the membranes were 33 %, 75.2 %, 100 % and 100 % for mACA, mACI, mGrA and mGrI respectively after 100 min operation. The wettability of the membranes was found to follow the order mACI < mACA < mGrI < mGrA, which corroborated well with water fluxes of 7, 8, 112 and 214 L h-1 m-2 recorded after 60 min duration and 1.0 bar applied pressure. The mechanisms of filtration of Pb2+ ions were adsorption for the AC-based membranes (mACA, mACI) and a combination of adsorption and size exclusion for the Gr-based membranes (mGrA, mGrI).

2.
BMC Pediatr ; 23(1): 521, 2023 10 19.
Artigo em Inglês | MEDLINE | ID: mdl-37858055

RESUMO

BACKGROUND: Early childhood life is critical for optimal development and is the foundation of future well-being. Genetic, sociocultural, and environmental factors are important determinants of child development. AIM: The objectives were to screen for suspected developmental delays (DDs) among Egyptian preschool children, and to explore the determinants of these delays based on sociodemographic, epidemiological, maternal, and child perinatal risk factors. METHODS: A national Egyptian cross-sectional developmental screening of a representative sample of preschool children (21,316 children) aged 12 to 71 months. The Revised Denver Prescreening Developmental Questionnaire (R-PDQ) followed by the Denver Developmental Screening Test, 2nd edition (DDST) was used. RESULTS: Each screened child manifested at least one of six developmental categories. Either typical development, gross motor delay (GM), fine motor adaptive delay (FMA), Language delay (L), Personal-social delay (PS), or multiple DDs. The prevalence of preschool children with at least one DD was 6.4%, while 4.5% had multiple DDs. Developmental language delay was the most prevalent, affecting 4.2% of children. The least affected domain was GM (1.9% of children). Boys were more likely to have DD than girls. Children in urban communities were more likely to have at least one DD than those in rural areas (OR = 1.28, 95%CI: 1.14-1.42), and children of middle social class than of low or high social class (OR = 1.49, 95%CI: 1.30-1.70 & OR = 1.40, 95%CI: 1.23-1.59 respectively). The strong perinatal predictors for at least one DD were children with a history of postnatal convulsions (OR = 2.68, 95%CI: 1.97-3.64), low birth weight (OR = 2.06, 95%CI: 1.69-2.52), or history of postnatal cyanosis (OR = 1.77, 95%CI: 1.26-2.49) and mothers had any health problem during pregnancy (OR = 1.73, 95%CI: 1.44-2.07). Higher paternal and maternal education decreased the odds of having any DD by 43% (OR = 0.57, 95% CI: 0.47-0.68) and 31% (OR = 0.69, 95%CI: 0.58-0.82) respectively. CONCLUSION: This study demonstrates a considerable attempt to assess the types and the prevalence of DD among preschool children in Egypt. Perinatal factors are among the most common determinants of DD in preschool children and the majority could be preventable risk factors.


Assuntos
Deficiências do Desenvolvimento , Transtornos do Desenvolvimento da Linguagem , Masculino , Feminino , Gravidez , Criança , Humanos , Pré-Escolar , Lactente , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/etiologia , Egito/epidemiologia , Estudos Transversais , Mães , Transtornos do Desenvolvimento da Linguagem/complicações
3.
Clin Oral Investig ; 27(7): 3949-3960, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37083985

RESUMO

OBJECTIVES: This study evaluated clinically and histologically the efficacy of modified perforated collagen membrane (PCM) and/or leukocyte- and platelet-rich fibrin (L-PRF) in combination with xenogeneic block bone graft in the vertical alveolar ridge augmentation. MATERIALS AND METHODS: Six adult mongrel dogs were enrolled in this randomized blinded study. After defect preparation, xenogeneic screw-fixed block graft was covered by an occlusive collagen membrane in group 1 that represented the control group (Block + CM). In group 2, L-PRF membrane was added first before top coverage by occlusive collagen membrane (Block + L-PRF + CM). Groups 3 (Block + PCM) and 4 (Block + L-PRF + PCM) were identical to the first two groups except that the occlusive collagen membrane was replaced by a perforated one. Following a healing period of 2 months, the dogs were submitted to the surgical reentry phase for clinical and histological evaluation. RESULTS: Clinically, no significant differences were found among all groups regarding vertical and horizontal ridge dimensions (p = 0.155, 0.492, respectively). Histomorphometric analysis revealed that the percentage of the total bone area and mature bone was significantly higher in group 4 (69.36 ± 2.72, 33.11 ± 5.18) compared to the control group (59.17 ± 4.27, 21.94 ± 2.86) (p = 0. 027, p = 0.029). CONCLUSION: The use of xenogenic block grafts in combination with a double-layered perforated collagen L-PRF membrane in vertical ridge augmentation appeared to improve the inductive power of this challenging defect type. CLINICAL RELEVANCE: Size and number of perforations may affect the mechanical and handling properties of the membrane.


Assuntos
Aumento do Rebordo Alveolar , Fibrina Rica em Plaquetas , Animais , Cães , Aumento do Rebordo Alveolar/métodos , Regeneração Óssea , Transplante Ósseo/métodos , Colágeno
4.
Polymers (Basel) ; 15(23)2023 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-38232019

RESUMO

Oil-contaminated water and industrial oily wastewater discharges have adversely affected aquatic ecosystems and human safety. Membrane separation technology offers a promising solution for effective oil-water separation. Thus, a membrane with high surface area, hydrophilic-oleophobic properties, and stability is a promising candidate. Electrospinning, a straightforward and efficient process, produces highly porous polymer-based membranes with a vast surface area and stability. The main objective of this study is to produce hydrophilic-oleophobic polyacrylonitrile (PAN) and cellulose acetate (CA) nanofibers using core-shell electrospinning. Incorporating CA into the shell of the nanofibers enhances the wettability. The core PAN polymer improves the electrospinning process and contributes to the hydrophilicity-oleophobicity of the produced nanofibers. The PAN/CA nanofibers were characterized by Fourier transform infrared spectroscopy, field emission scanning electron microscopy, X-ray diffraction, and surface-wetting behavior. The resulting PAN/cellulose nanofibers exhibited significantly improved surface-wetting properties, demonstrating super-hydrophilicity and underwater superoleophobicity, making them a promising choice for oil-water separation. Various oils, including gasoline, diesel, toluene, xylene, and benzene, were employed in the preparation of oil-water mixture solutions. The utilization of PAN/CA nanofibers as a substrate proved to be highly efficient, confirming exceptional separation efficiency, remarkable stability, and prolonged durability. The current work introduces an innovative single-step fabrication method of composite nanofibers, specially designed for efficient oil-water separation. This technology exhibits significant promise for deployment in challenging situations, offering excellent reusability and a remarkable separation efficiency of nearly 99.9%.

5.
Cureus ; 15(12): e50757, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38239520

RESUMO

Internal hernia (IH) is the protrusion of abdominal contents, mostly small bowel loops, through a defect in the peritoneum or mesentery. Petersen's hernia is a type of internal hernia, in which part of the intestinal loop protrudes through a defect between small bowel limbs, transverse mesocolon, and retroperitoneum. It has been reported in individuals undergoing gastrojejunostomy (GJ), especially following bariatric surgeries. Because of the expanding popularity of these surgical treatments, the total incidence of internal hernias has recently increased. The laparoscopic Roux-en-Y gastric bypass (RYGB) has been proven to be a safe and successful alternative to the classic open RYGB. Although the absence of postoperative adhesions is one advantage of minimally invasive surgery, it facilitates the occurrence of internal hernia with reported rates of 5% three months to three years following surgery. Clinical findings are vague and can vary from mild to severe abdominal pain that can be accompanied by vomiting, nausea, and abdominal distention.

6.
Int J Mol Sci ; 23(23)2022 Dec 06.
Artigo em Inglês | MEDLINE | ID: mdl-36499765

RESUMO

The field of targeted protein degradation (TPD) is a rapidly developing therapeutic modality with the promise to tame disease-relevant proteins in ways that are difficult or impossible to tackle with other strategies. While we move into the third decade of TPD, multiple degrader drugs have entered the stage of the clinic and many more are expected to follow. In this review, we provide an update on the most recent advances in the field of targeted degradation with insights into possible clinical implications for cancer prevention and treatment.


Assuntos
Oncologia , Proteínas , Proteólise
7.
RSC Adv ; 11(30): 18213-18224, 2021 May 19.
Artigo em Inglês | MEDLINE | ID: mdl-35480937

RESUMO

This study attempts to enhance the mixture instability of methanol/hydrous methanol mixed with diesel fuel, waste cooking oil (WCO) biodiesel, and Jet A-1 fuel using n-octanol and n-decanol as cosolvent at numerous temperatures of 10 °C, 20 °C, and 30 °C. The experiment is divided into two stages: first, blending pure methanol with diesel oil, Jet A-1, and WCO biodiesel individually utilizing n-octanol and n-decanol as cosolvent at various temperatures. Second, combining hydrous methanol (90% methanol + 10 wt% water) with diesel oil, Jet A-1, and WCO biodiesel independently and applying n-octanol and n-decanol as cosolvent at different temperatures. Pure methanol or hydrous methanol is mixed with the base fuels at different mixing proportions varying from 0 to 100 vol% with 10 vol% increments. The co-solvent, mainly n-octanol and n-decanol (titrant), is progressively and separately inserted into the tube with continuous shaking by utilizing a high-precision pipette until the ternary mixtures' phase borders seem. The findings demonstrate phase separation in pure methanol-diesel and pure methanol-Jet A-1 combinations even when the blend temperature increased to 60 °C. The pure methanol/biodiesel combination proves complete solubility without adding an external agent. The results also illustrate that the ambient temperature considerably affects the stability of mixture and amount of cosolvent in the blend. n-Octanol and n-decanol showed promising performance in enhancing the phase stability issue of methanol and hydrous methanol with the base fuels. It can be deduced that the minimum amount of cosolvent is recorded for biodiesel-hydrous methanol, Jet A-1-hydrous methanol, and diesel-hydrous methanol, respectively.

8.
Radiol Imaging Cancer ; 2(2): e190020, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-33778702

RESUMO

Pancreatic ductal adenocarcinoma (PDAC) is a genetically heterogeneous, biologically aggressive malignancy with a uniformly poor prognosis. While most pancreatic cancers arise sporadically, a small subset of PDACs develop in patients with hereditary and familial predisposition. Detailed studies of the rare hereditary syndromes have led to identification of specific genetic abnormalities that contribute to malignancy. For example, germline mutations involving BRCA1, BRCA2, PRSS1, and mismatch repair genes predispose patients to PDAC. While patients with Lynch syndrome develop a rare "medullary" variant of adenocarcinoma, intraductal papillary mucinous tumors are observed in patients with McCune-Albright syndrome. It is now well established that PDACs originate via a multistep progression from microscopic and macroscopic precursors due to cumulative genetic abnormalities. Improved knowledge of tumor genetics and oncologic pathways has contributed to a better understanding of tumor biology with attendant implications on diagnosis, management, and prognosis. In this article, the genetic landscape of PDAC and its precursors will be described, the hereditary syndromes that predispose to PDAC will be reviewed, and the current role of imaging in screening and staging assessment, as well as the potential role of molecular tumor-targeted imaging for evaluation of patients with PDAC and its precursors, will be discussed. Keywords: Abdomen/GI, Genetic Defects, Oncology, Pancreas Supplemental material is available for this article. © RSNA, 2020.


Assuntos
Adenocarcinoma , Carcinoma Ductal Pancreático , Neoplasias Pancreáticas , Adenocarcinoma/diagnóstico por imagem , Adenocarcinoma/genética , Carcinoma Ductal Pancreático/diagnóstico por imagem , Carcinoma Ductal Pancreático/genética , Predisposição Genética para Doença , Humanos , Neoplasias Pancreáticas/diagnóstico por imagem , Neoplasias Pancreáticas/genética
9.
Abdom Radiol (NY) ; 45(4): 964-981, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31538225

RESUMO

The spectrum of adrenal masses in the pediatric population markedly differs from that in the adult population. Imaging plays a crucial role in detecting adrenal masses, differentiating malignant from benign lesions, recognizing extra-adrenal lesions in the suprarenal fossa, and directing further management. Ultrasound is the primary imaging modality of choice for the evaluation of adrenal masses in the neonatal period, whereas MRI or CT is used as a problem-solving tool. In older children, computed tomography or magnetic resonance imaging is often required after initial sonographic evaluation for further characterization of a lesion. Herein, we discuss the salient imaging features along with pathophysiology and clinical features of pediatric adrenal masses.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico por imagem , Neoplasias das Glândulas Suprarrenais/congênito , Neoplasias das Glândulas Suprarrenais/patologia , Criança , Diagnóstico Diferencial , Humanos
10.
Curr Probl Diagn Radiol ; 49(2): 116-123, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-30655112

RESUMO

Extraskeletal osteosarcoma are rare malignant mesenchymal neoplasms of soft tissues representing around 1% of all soft tissue. The exact mechanism of tumorigenesis of primary breast osteosarcoma is still unclear. However, most of the cases develop without a recognized etiologic factor. Primary osteosarcoma of the breast is often initially misdiagnosed as breast fibroadenoma. Different imaging modalities and pathology play important role in differentiating breast osteosarcoma from other benign and malignant lesions of the breast resulting in dramatic change in the management.


Assuntos
Diagnóstico por Imagem/métodos , Osteossarcoma/diagnóstico por imagem , Osteossarcoma/fisiopatologia , Mama/diagnóstico por imagem , Mama/fisiopatologia , Diagnóstico Diferencial , Feminino , Humanos
11.
Abdom Radiol (NY) ; 45(8): 2287-2304, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-31758230

RESUMO

The pattern of disease causing acute abdominal pain has changed over last few decades, some of this has been attributed to intraabdominal cancers. The most common acute abdominal complaints in cancer patients are related to the gastrointestinal system. Abdominal emergencies in cancer patients can result from the underlying malignancy itself, cancer therapy and/or result from the standard pathologies causing acute abdomen in otherwise healthy population. Therapy-related or disease-related immunosuppression or high dose analgesics often blunt many of the findings which are usually expected in non-cancer general population. This complicates the clinical picture rendering the clinical exam less reliable in many cancer patients, and resulting in different pathologies which clinicians and the radiologists should remain aware of. This article focuses on imaging illustrations with differential diagnosis for various emergency scenarios related to acute abdomen specifically in oncologic settings.


Assuntos
Abdome Agudo , Neoplasias , Abdome , Abdome Agudo/diagnóstico por imagem , Abdome Agudo/etiologia , Dor Abdominal , Diagnóstico por Imagem , Emergências , Humanos , Oncologia , Neoplasias/complicações , Neoplasias/diagnóstico por imagem
12.
Abdom Radiol (NY) ; 45(2): 520-536, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31745573

RESUMO

The spectrum of ovarian tumors in the pediatric population differs significantly from that in adults. Germ cell tumors are the predominant class of ovarian tumors in children, whereas epithelial tumors are the most common in adults. Ultrasonography is the modality of choice for the initial evaluation of pediatric ovarian tumors. Determining the diagnosis based on imaging may prove difficult, and combining the imaging findings with the clinical scenario is very helpful in reaching a differential diagnosis during clinical practice. We will discuss the spectrum of ovarian neoplasms in the pediatric population and describe their clinical, pathologic, and imaging characteristics. A few unique entities related to ovarian tumors, such as growing teratoma syndrome, anti-N-methyl-D-aspartate receptor encephalitis, and hereditary ovarian tumor syndromes, are also discussed. In addition, we will review several entities that may mimic ovarian neoplasms as well as their distinct imaging features.


Assuntos
Neoplasias Ovarianas/diagnóstico por imagem , Ultrassonografia/métodos , Criança , Diagnóstico Diferencial , Feminino , Humanos , Neoplasias Ovarianas/patologia
13.
Exp Parasitol ; 208: 107800, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31726054

RESUMO

The aims of this study were an establishment of the domestic rabbit as an intermediate host for cystic echinococcosis (CE) and to evaluate the potency of the crude germinal layer and the protoscoleces antigens to protect against the CE. Firstly; Two groups of white Newzeland rabbits were infected orally either by 5000 active oncospheres or viable protoscoleces separately. After 20 weeks, the slaughtered rabbits showed the presence of hydatid cysts at different internal organs. Molecular detection of the resulted cysts was conducted. Secondly; 27 rabbits were divided into nine groups (n = 3). Groups 1 and 2 were immunized with the crude germinal layer antigen while the groups 3 and 4 were immunized with the crude protoscoleces antigen. Groups 5 and 6 received the adjuvant mineral oil. Groups 7 and 8 were used as positive control. The last 9 group was kept as a negative control. The obtained results showed a significant high protection percentage of 83.4% and high antibody titer was recorded in groups that received the crude germinal layer antigen comparing with the groups that immunized with the crude protoscoleces antigen as their protection percentage was 66.7% with lower IgG response. In conclusion, the domestic rabbits could be used as a laboratory model for CE. Developing of the germinal layer antigen is more immunogenic than the protoscoleces one and could be used as a promising vaccine. Attention should be directed towards the existing rabbit in the environment adjacent to infected dogs as it could be a part of Echinococcus life cycle.


Assuntos
Modelos Animais de Doenças , Equinococose/prevenção & controle , Echinococcus/imunologia , Coelhos , Vacinação , Vacinas , Análise de Variância , Animais , Antígenos de Helmintos/imunologia , DNA de Helmintos/isolamento & purificação , Cães , Echinococcus/genética , Ensaio de Imunoadsorção Enzimática , Imunoglobulina G/biossíntese , Rim/parasitologia , Fígado/parasitologia , Pulmão/parasitologia , Masculino , Omento/parasitologia , Potência de Vacina
14.
Abdom Radiol (NY) ; 45(10): 3007-3027, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-31707438

RESUMO

Hematologic malignancies include several lymphoproliferative and myeloproliferative disorders, many of which are frequently encountered in current health care settings. These malignancies frequently affect the gastrointestinal (GI) tract, either by secondary extranodal or extramedullary extension to the GI tract, or as a primary process arising in the GI tract. In fact, the GI tract may represent the most common extranodal site of involvement in many of them, such as lymphoma. Furthermore, in the current era of improved cancer treatment and advanced transplant procedures with increased survival, it has been quite common to encounter GI involvement by these malignancies through the disease course. Post-transplant lymphoproliferative disorder following kidney transplantation, for example, very commonly involves the GI tract. Other conditions that can involve the GI tract include multiple myeloma, plasmacytoma, myeloid sarcoma, mastocytosis, and Castleman disease. Imaging diagnosis of these malignancies can be challenging, since they are much less common than primary GI cancers and both share many common imaging features as well. However, certain imaging features, particularly in combination with a matching clinical scenario, play a pivotal role in diagnosing these conditions and directing further evaluation. In this article, we review common and rare hematologic malignancies of the GI tract and discuss their pathophysiologic, clinical, and imaging features.


Assuntos
Neoplasias Gastrointestinais , Neoplasias Hematológicas , Neoplasias Gastrointestinais/diagnóstico por imagem , Neoplasias Hematológicas/diagnóstico por imagem , Humanos
15.
Radiol Oncol ; 53(3): 275-284, 2019 09 24.
Artigo em Inglês | MEDLINE | ID: mdl-31553710

RESUMO

Background Heterotopic Ossification (HO) is a common condition referring to ectopic bone formation in soft tissues. It has two major etiologies, acquired (more common) and genetic. The acquired form is closely related to tissue trauma. The exact pathogenesis of this disease remains unclear; however, there is ongoing research in prophylactic and therapeutic treatments that is promising. Conclusions Due to HO potential to cause disability, it is so important to differentiate it from other causes in order to establish the best possible management.


Assuntos
Ossificação Heterotópica/diagnóstico por imagem , Calcinose/diagnóstico por imagem , Condrocalcinose/diagnóstico por imagem , Diagnóstico Diferencial , Fratura Avulsão/diagnóstico por imagem , Gota/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Miosite Ossificante/diagnóstico por imagem , Ossificação Heterotópica/etiologia , Ossificação Heterotópica/terapia , Osteossarcoma/diagnóstico por imagem , Radiografia , Tendinopatia/diagnóstico por imagem , Ferimentos e Lesões/complicações
16.
Int Health ; 10(6): 490-494, 2018 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-30165402

RESUMO

Introduction: In Sudan, echinococcosis (EC) is a chronic neglected zoonotic parasitic disease caused by Echinococcus granulosus. Studies have shown high prevalence rates in dogs (50-70%), camels (35%) and sheep, goats and cattle (10-11%). In total, 0.3-1.0% of humans in Central and South Sudan are infected with the G6 camel strain. This strain is almost exclusively the cause of human infections. The objective of this study was to explore knowledge, attitudes and practices (KAP) regarding the disease among people living around Tambool city, Central Sudan. Methods: A cross-sectional survey was conducted in three villages around the city of Tambool in Central Sudan. Three-hundred-and-twelve households were selected from the administrative unit of the area for participation in the study, of which 300 agreed to partake. A standardized questionnaire was designed to collect data on EC in animals, humans and the environment. The questionnaire domains were socio-demographic characteristics, KAP regarding echinococcosis. Results: The population surveyed showed that 68.7% (206/300) had never heard of the disease, while 31.3% (94/300) had heard about it. The level of knowledge among the 31.3% of those that had heard about the disease was excellent (69/94; 73.4%); so were their attitudes (76/94; 80.9%). However, the majority of the participants (64/94; 68%) showed poor practice regarding this disease, enhancing the odds for further propagation of parasite circulation in the animal and human populations at risk. Knowledge was found to be significantly associated with marital status. Practice was found to be significantly associated with occupation. Conclusions: There is a need for the implementation of a multidisciplinary program using the One Health approach to effectively control and prevent EC.


Assuntos
Doenças dos Animais/epidemiologia , Equinococose/epidemiologia , Conhecimentos, Atitudes e Prática em Saúde , Adolescente , Adulto , Animais , Criança , Pré-Escolar , Estudos Transversais , Echinococcus granulosus , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores Socioeconômicos , Sudão do Sul/epidemiologia , Adulto Jovem
17.
Clin Genet ; 92(1): 52-61, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28039895

RESUMO

Advanced cholestatic liver disease is a leading referral to pediatric liver transplant centers. Recent advances in the genetic classification of this group of disorders promise a highly personalized management although the genetic heterogeneity also poses a diagnostic challenge. Using a next-generation sequencing-based multi-gene panel, we performed retrospective analysis of 98 pediatric patients who presented with advanced cholestatic liver disease. A likely causal mutation was identified in the majority (61%), spanning many genes including ones that have only rarely been reported to cause cholestatic liver disease, e.g. TJP2 and VIPAS39. We find no evidence to support mono-allelic phenotypic expression in the carrier parents despite the severe nature of the respective mutations, and no evidence of oligogenicity. The high-carrier frequency of the founder mutations identified in our cohort (1 in 87) suggests a minimum incidence of 1:7246, an alarmingly high disease burden that calls for the primary prevention through carrier screening.


Assuntos
Colestase/genética , Hepatopatias/genética , Proteínas de Transporte Vesicular/genética , Proteína da Zônula de Oclusão-2/genética , Adolescente , Criança , Pré-Escolar , Colestase/diagnóstico , Colestase/enzimologia , Colestase/patologia , Feminino , Regulação da Expressão Gênica , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Recém-Nascido , Hepatopatias/diagnóstico , Hepatopatias/enzimologia , Hepatopatias/patologia , Masculino , Mutação , Adulto Jovem
18.
J Helminthol ; 91(5): 583-588, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27762173

RESUMO

Haemonchus contortus is a major parasite of small ruminants and its blood-feeding behaviour causes effects ranging from mild anaemia to death. Knowledge of the genetic variation within and among H. contortus populations can provide the foundation for understanding transmission patterns and aid in the control of haemonchosis. Adult male H. contortus were collected from three geographical regions in Egypt. The second internal transcribed spacer (ITS2) of nuclear ribosomal DNA was amplified using the polymerase chain reaction (PCR) and sequenced directly. The population genetic diversity and sequence variations were determined. Nucleotide sequence analyses revealed one genotype (ITS2) in all worms, without genetic differentiation. The similarity in population genetic diversity and genetic patterns observed among the three geographical regions could be attributed to possible movement between the sites. This is the first study of genetic variation in H. contortus in Egypt. The present results could have implications for the rapid characterization of H. contortus and other trichostrongyloid nematodes, and evaluation of the epidemiology of H. contortus in Egypt.


Assuntos
Variação Genética , Filogenia , Doenças dos Ovinos/parasitologia , Trichostrongyloidea/classificação , Trichostrongyloidea/genética , Tricostrongiloidíase/veterinária , Animais , Análise por Conglomerados , DNA de Helmintos/química , DNA de Helmintos/genética , DNA Espaçador Ribossômico/química , DNA Espaçador Ribossômico/genética , Egito , Genótipo , Masculino , Reação em Cadeia da Polimerase , Análise de Sequência de DNA , Ovinos , Trichostrongyloidea/isolamento & purificação , Tricostrongiloidíase/parasitologia
19.
Urol Case Rep ; 7: 48-50, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27335792

RESUMO

We report a case of 15-year old female who presented with recurrent lower abdominal pain treated three times with ESWL previously. She was diagnosed as having right ectopic kidney with a 4 cm renal stone in renal pelvis and involving lower and mid calyx. She was treated successfully with laparoscopic assisted transmesocolonic percutaneous nephrolithotripsy. Procedure resulted in complete stone clearance without any perioperative or post operative complication. Patient stayed in hospital for 72 h with no drains or stents after day 5, post operatively.

20.
Rev Med Suisse ; 11(484): 1592-5, 2015 Sep 02.
Artigo em Francês | MEDLINE | ID: mdl-26502619

RESUMO

Foreign body (FB) ingestion is a frequent reason for gastroenterology consulting. Eighty percent of these ingestions are accidental and observed among paediatric subjects. However, intentional repetitive ingestions are also observed, especially amongst prisoners or psychiatric patients. Most FBs pass throughout the digestive tract without any complication and without any need for surgical or endoscopic intervention. Nevertheless, around 10-20% of cases require an endoscopy examination and 1% will lead to a surgical intervention. Management approaches should favor inter-disciplinarity, balance benefits and risks of FB removal based on its location, and integrate psychiatric comorbidities into the decision process.


Assuntos
Sistema Digestório , Corpos Estranhos , Duodeno , Esôfago , Corpos Estranhos/diagnóstico , Corpos Estranhos/cirurgia , Humanos , Estômago
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