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1.
Med Arch ; 78(2): 170-173, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38566878

RESUMEN

Background: Juvenile papillomatosis (JP) of the breast is a rare and benign proliferative disorder affecting young women. The affected patients tend to have an increased risk of breast cancer development during follow-up. Objective: This article aims to highlight a rare entity of breast disease, that harbor risk of breast cancer. Case Presentation: Here, we present 2 cases of JP in young females; the first case is a 13 year-old presented with spontaneous nipple discharge, while the other patient is a 24 year-old presented with a right breast lump. Both patients had a total excision of the breast lesions, revealing JP at histology. Discussion: Juvenile Papillomatosis is considered a clinicopathological entity and is usually misdiagnosed as fibroadenoma clinically and radiologically, which requires histological correlation. The histologic findings are well-defined (hyperplasia, papillomatosis, and multiple cysts with foamy histiocytes).The controversy in management between surgery and observation is because of insufficient knowledge about the direct relationship between JP and subsequent cancer. Conclusion: Considering the risk of developing breast cancer in JP, enrolling patients and their families in a close follow-up and surveillance program is crucial.


Asunto(s)
Neoplasias de la Mama , Quistes , Papiloma , Adolescente , Femenino , Humanos , Adulto Joven , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/cirugía , Neoplasias de la Mama/patología , Papiloma/diagnóstico , Papiloma/cirugía , Papiloma/patología
2.
J Hist Neurosci ; 33(2): 204-219, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38175038

RESUMEN

Although the history of treating headaches spans thousands of years, scientists during the tenth century made unique and significant contributions to understanding, treating, and preventing the development of headaches. In fact, the tenth century saw the ability to differentiate between types of headache and treatments for the first time. This article looks at the contributions of Persian, Anglo-Saxon, and Chinese medicine to the diagnosis and treatment of different types of headaches in the tenth century. It does so with reference to a range of herbal, surgical, and pharmacological methods of treating this ailment. The article also uncovers how tenth-century herbal remedies were effective at explaining the properties of their ingredients in modern terms and concepts including analgesia, anti-inflammation, and antinociception, and explores the way tenth-century treatments relieved painful headaches and prevented their recurrence.


Asunto(s)
Cefalea , Humanos , Cefalea/terapia , Cefalea/historia , Historia Medieval
3.
Med Arch ; 77(4): 314-318, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37876559

RESUMEN

Background: Hepatic hemangioma represents the most frequent benign tumor originating from the liver. When the tumor exceeds 10 cm, and in some studies 4 or 5 cm, it is considered giant, which accounts for 10% of all hemangiomas arising from the liver. Histologically, Sclerosing hepatic hemangioma, in particular, is an exceedingly rare subtype of hemangioma. Clinically Bornman-Terblanche-Blumgart syndrome is a very rare complication of hepatic hemangioma. Objective: The aim of this case presentation was to contribute to the literature by documenting a case of giant sclerosing hemangioma diagnosed in a 36-year-old female presenting with Bornman-Terblanche-Blumgart syndrome, along with a brief review of the literature. Case report: The current paper documents two rare clinical and histological features of hepatic hemangioma. Bornman-Terblanche-Blumgart syndrome is complicated a giant hepatic hemangioma found histologically to be sclerosing in nature. Knowledge about the uncommon complications of liver hemangioma permits the implementation of appropriate interventions in a timely manner and, in turn, can enhance the patient's quality of life and minimize rates of associated mortality.


Asunto(s)
Hemangioma Cavernoso , Hemangioma , Histiocitoma Fibroso Benigno , Neoplasias Hepáticas , Femenino , Humanos , Adulto , Calidad de Vida , Hemangioma/complicaciones , Hemangioma/diagnóstico , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/patología , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/patología
4.
Mamm Genome ; 34(3): 364-378, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37076585

RESUMEN

Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic trait or attribute categories required for the annotation of genome-wide association studies (GWAS), Quantitative Trait Loci (QTL) mappings or any population-focussed measurable trait data. The integration of trait and biological attribute information with an ever increasing body of chemical, environmental and biological data greatly facilitates computational analyses and it is also highly relevant to biomedical and clinical applications. The Ontology of Biological Attributes (OBA) is a formalised, species-independent collection of interoperable phenotypic trait categories that is intended to fulfil a data integration role. OBA is a standardised representational framework for observable attributes that are characteristics of biological entities, organisms, or parts of organisms. OBA has a modular design which provides several benefits for users and data integrators, including an automated and meaningful classification of trait terms computed on the basis of logical inferences drawn from domain-specific ontologies for cells, anatomical and other relevant entities. The logical axioms in OBA also provide a previously missing bridge that can computationally link Mendelian phenotypes with GWAS and quantitative traits. The term components in OBA provide semantic links and enable knowledge and data integration across specialised research community boundaries, thereby breaking silos.


Asunto(s)
Ontologías Biológicas , Disciplinas de las Ciencias Biológicas , Estudio de Asociación del Genoma Completo , Fenotipo
5.
bioRxiv ; 2023 Jan 27.
Artículo en Inglés | MEDLINE | ID: mdl-36747660

RESUMEN

Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic trait or attribute categories required for the annotation of genome-wide association studies (GWAS), Quantitative Trait Loci (QTL) mappings or any population-focused measurable trait data. Moreover, variations in gene expression in response to environmental disturbances even without any genetic alterations can also be associated with particular biological attributes. The integration of trait and biological attribute information with an ever increasing body of chemical, environmental and biological data greatly facilitates computational analyses and it is also highly relevant to biomedical and clinical applications. The Ontology of Biological Attributes (OBA) is a formalised, species-independent collection of interoperable phenotypic trait categories that is intended to fulfil a data integration role. OBA is a standardised representational framework for observable attributes that are characteristics of biological entities, organisms, or parts of organisms. OBA has a modular design which provides several benefits for users and data integrators, including an automated and meaningful classification of trait terms computed on the basis of logical inferences drawn from domain-specific ontologies for cells, anatomical and other relevant entities. The logical axioms in OBA also provide a previously missing bridge that can computationally link Mendelian phenotypes with GWAS and quantitative traits. The term components in OBA provide semantic links and enable knowledge and data integration across specialised research community boundaries, thereby breaking silos.

6.
Int J Surg Case Rep ; 104: 107946, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36827853

RESUMEN

INTRODUCTION: Jejunal diverticulosis is a rare entity that presents a challenging diagnosis due to its vague and non-specific clinical presentations. 40 % of the patients remain asymptomatic until the development of complications. CASE PRESENTATION: We report a case of 84 years old female who presented to the hospital with vomiting and abdominal pain, found to have jejunal diverticulosis complicated by perforation in a CT scan. The patient underwent emergency expletory laparotomy with segmental intestinal resection and anastomosis. DISCUSSION: The incidence of jejunal diverticulosis ranges between 3 and 5 %, with most patients discovered incidentally. Therefore, medical or surgical treatment management depends on clinical presentation and complications that necessitate surgical intervention. CONCLUSION: Jejunal diverticulosis is a rare entity that commonly affects the elderly with significant morbidity and mortality; it is an important clinical entity to consider when approaching patients with acute abdomen.

7.
Nucleic Acids Res ; 51(D1): D977-D985, 2023 01 06.
Artículo en Inglés | MEDLINE | ID: mdl-36350656

RESUMEN

The NHGRI-EBI GWAS Catalog (www.ebi.ac.uk/gwas) is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare and industry. The Catalog contains variant-trait associations and supporting metadata for >45 000 published GWAS across >5000 human traits, and >40 000 full P-value summary statistics datasets. Content is curated from publications or acquired via author submission of prepublication summary statistics through a new submission portal and validation tool. GWAS data volume has vastly increased in recent years. We have updated our software to meet this scaling challenge and to enable rapid release of submitted summary statistics. The scope of the repository has expanded to include additional data types of high interest to the community, including sequencing-based GWAS, gene-based analyses and copy number variation analyses. Community outreach has increased the number of shared datasets from under-represented traits, e.g. cancer, and we continue to contribute to awareness of the lack of population diversity in GWAS. Interoperability of the Catalog has been enhanced through links to other resources including the Polygenic Score Catalog and the International Mouse Phenotyping Consortium, refinements to GWAS trait annotation, and the development of a standard format for GWAS data.


Asunto(s)
Estudio de Asociación del Genoma Completo , Bases del Conocimiento , Animales , Humanos , Ratones , Variaciones en el Número de Copia de ADN , National Human Genome Research Institute (U.S.) , Fenotipo , Polimorfismo de Nucleótido Simple , Programas Informáticos , Estados Unidos
8.
Int J Surg Case Rep ; 98: 107549, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36041332

RESUMEN

INTRODUCTION AND IMPORTANCE: Stoma creation is one of the common performed surgical procedures. For both benign and malignant conditions, in elective and emergency settings. Like any surgical procedure, it is associated with complications. One of the most frequently encountered is prolapse, with the incidence rate reaching 26 %. On the other hand, intussusception of the bowel through the ostomy is a rare complication, with few cases being reported in the literature. CASE PRESENTATION: We reported a case of 52 years old female with a proximal limb transverse loop colostomy prolapse noted one-day prior to her presentation. Intraoperatively, cecal intussusception through the ostomy is encountered with unsalvageable right colon. The patient ended up with right hemicolectomy, end ileostomy, and mucus fistula. CLINICAL DISCUSSION: Although stoma prolapse is a common late complication with an impact on quality of life in term of difficulty with appliance fitting, it can be an early sign of serious condition like intussusception. This necessitating a differentiation between intussusception through a prolapsed colostomy from simple prolapse. Based on literature, reduced stoma output along with significant irreducible prolapsed segment are the frequent clinical characteristic. Yet it should be noted that intussuscepted segment is only evident upon surgical exploration. CONCLUSION: In conclusion, caution during stoma creation must be attempted, with avoidance of underestimating a significant irreducible prolapse. As it may be associated with an intussusception which may lead to ischemia and bowel perforation.

9.
PLoS Comput Biol ; 17(10): e1009462, 2021 10.
Artículo en Inglés | MEDLINE | ID: mdl-34673773

RESUMEN

The ever increasing applications of bioinformatics in providing effective interpretation of large and complex biological data require expertise in the use of sophisticated computational tools and advanced statistical tests, skills that are mostly lacking in the Sudanese research community. This can be attributed to paucity in the development and promotion of bioinformatics, lack of senior bioinformaticians, and the general status quo of inadequate research funding in Sudan. In this paper, we describe the challenges that have encountered the development of bioinformatics as a discipline in Sudan. Additionally, we highlight on specific actions that may help develop and promote its education and training. The paper takes the National University Biomedical Research Institute (NUBRI) as an example of an institute that has tackled many of these challenges and strives to drive powerful efforts in the development of bioinformatics in the country.


Asunto(s)
Biología Computacional , Universidades/organización & administración , Biología Computacional/educación , Biología Computacional/organización & administración , Países en Desarrollo , Humanos , Sudán
10.
Int J Surg Case Rep ; 84: 106044, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34225062

RESUMEN

INTRODUCTION: Gastrointestinal stromal tumor (GIST) is an uncommon mesenchymal neoplasm that commonly arises from the stomach and proximal small intestine but can develop in any part of the gastrointestinal tract. The disease can range from primary localized to an advanced metastatic unresectable disease in up to 30% of patients. Usually, metastasis involves the liver, peritoneum, and occasionally the lungs. The current standard treatment of localized resectable tumors is complete oncological resection, while advanced metastatic GISTs treatment remains contentious. CASE PRESENTATION: We report a case of a 34 years old pregnant female presenting with a 3 days history of multiple episodes of hematemesis and melena. Laboratory investigations were unremarkable except for severe anemia (Hgb 4.4 g/dL). After further investigations a diagnosis of duodenal GIST (DGIST) with liver metastasis was made. She received and showed good response to neoadjuvant Imatinib therapy, which was followed by a successful 2-stage surgery in the form of extended right hepatectomy and Whipple procedure with a good survival. CLINICAL DISSECTION: The evolution of Imatinib had a tremendous impact on surgery in metastatic GIST even in initially unresectable cases, thereby providing a better survival. However, the duration of neoadjuvant Imatinib course and the matter of resistance are still unclear those necessitating the use of different agents or the surgical approach. CONCLUSION: Although with the advancements in surgical approaches and perioperative care, liver resection might be a curative option. The role of surgery in advanced GIST remains a controversial matter that needs critical selection of cases based on further future research.

11.
J Surg Case Rep ; 2020(7): rjaa141, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-32699594

RESUMEN

Chilaiditi syndrome is a radiological manifestation of a large bowel interposition between the liver and right hemidiaphragm that associated with gastrointestinal symptoms. We report a case of 78-year-old Saudi male with multiple comorbidities, presented to the emergency department with two episodes of passaging a large amount of fresh, bright blood per rectum. Later, the patient was diagnosed with Chilaiditi syndrome and managed with conservative measures. The presence of Chilaiditi signs can be caused by an abnormality of either liver, colon or right hemidiaphragm that leads to sub-diaphragmatic space enlargement or intestinal hypermobility. Computed tomography imaging is the best diagnostic modality. Conservative treatment is the first line in management.

12.
Int J Surg Case Rep ; 72: 207-211, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32544830

RESUMEN

INTRODUCTION: Abdominal evisceration is uncommon after blunt abdominal trauma; therefore, it warrants urgent laparotomy. We report a young adult male who sustained multiple injuries due to a high impact mechanism resulting in blunt abdominal injury and underwent numerous laparotomies. CASE REPORT: In a high-speed motorcycle accident, a twenty-six-year-old male sustained a direct, blunt injury to his abdomen, which resulted in a right hemothorax, perforation of the stomach, and small bowel. Multiple mesenteric vessels tear, a retroperitoneal hematoma, liver, and pancreatic injury. The abdominal wall split transversely, extruding intact bowel. After resuscitation, according to the ATLS protocol, the patient underwent eight laparotomies for damage control. After 45 days in the Surgical Intensive Care Unit, then 11 days in the surgical ward, he was discharged in a satisfactory condition. Eight months later, he was admitted electively for ileostomy reversal, which was uneventful. CONCLUSION: Patients with high trauma mechanisms have high mortality and morbidity rate. Blunt injury with eviscerated abdominal contents requires prompt, expeditious, and timely intervention, particularly at the initial operative intervention with damage control procedures, both prompt management and structured approach, were tailored depending in the magnitude of the injury. A multidisciplinary approach is mandatory throughout the period of treatment until recovery and rehabilitation.

13.
Int J Surg Case Rep ; 70: 75-77, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32413772

RESUMEN

INTRODUCTION: There has been increased interest in applying the principles of minimally invasive surgery in thyroid surgery which was promoted by Miccoli and his colleagues in 1999. Different surgical techniques since then were introduced, transcervical and extracervical approaches. PRESENTATION OF CASE: A 33-year-old Saudi female presented with a swelling over the left side of her neck and dysphagia for three years. The patient underwent transoral endoscopic left thyroid lobectomy, isthmusectomy and sampling of the central compartment via vestibular approach (TOETVA). To the best of our knowledge, this is the first case underwent TOETVA successfully in Saudi Arabia and gulf cooperation council countries. DISCUSSION: TOETVA is a novel promising procedure, an adaptation of the concept of natural orifice transluminal endoscopic surgery (NOTES) with advantages of scar-less result in excellent cosmesis while retaining the advantages of minimally invasive surgery and the potential value of the procedure outside the enhanced cosmesis continuous to be defined. The cosmetic superiority in avoiding visible scarring must be balanced against operative time, post-operative hospital stays, increased expense, surgical training, and steep learning curve required. The technique is novel, some thyroid surgeons opted for longer postoperative observation to exclude complications. As experience and confidence in the procedure increase, the length of stay should decrease dramatically. CONCLUSION: This procedure is feasible and safe with excellent cosmetic result. It is in its initial stage in Saudi Arabia, gulf cooperation council countries and it has a potential to be performed more frequently in near future.

14.
Cureus ; 12(1): e6729, 2020 Jan 21.
Artículo en Inglés | MEDLINE | ID: mdl-32015935

RESUMEN

Introduction Gallstone disease is an emerging health issue worldwide with its incidence on the rise. The development of gallstone disease is multifactorial, with risk factors including increased age, female sex, obesity, and the use of oral contraceptive pills. It has been established that more than 50% of patients with gallstone disease have a coexisting lipid disorder. Cholecystectomy, the definitive management of gallstones, may improve the lipid profiles of some patients. Objectives This study aims to examine the postoperative changes in the lipid profiles of patients who underwent cholecystectomy. These lipid profiles include levels of low-density lipoprotein (LDL), triglycerides (TG), high-density lipoprotein (HDL), total cholesterol (TC), and the Chol/HDL ratio. Methods This retrospective study included 55 patients who underwent cholecystectomy between 2013 and 2017. Biochemical parameters, which include LDL, TG, HDL, and TC levels, were collected using the hospital's recording system, in addition to the calculation of the Chol/HDL ratio. Results Statistically significant changes included a reduction in the mean LDL values in the two-, four-, and six-month postoperative periods (P = 0.029, 0.000, and 0.008, respectively), increased mean TG levels one-week postoperatively (P = 0.034), decreased mean TC levels at four (P = 0.049) and six months (P = 0.026) after cholecystectomy, and increased Chol/HDL ratio at two and 12 months postoperatively (P = 0.03, and 0.022, respectively). Conclusions From the results, it can be concluded that cholelithiasis is associated with abnormal lipid profiles and that undergoing cholecystectomy may improve them and reduce the future risk of developing coronary artery disease. However, further research is needed to confirm this association.

15.
J Taibah Univ Med Sci ; 14(5): 448-453, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31728143

RESUMEN

OBJECTIVES: Following the rise in the incidence of cancer, the need for chemotherapy has escalated, as have its side effects. Psychological distress is one of the known side effects of chemotherapy; however, it has not received adequate attention. The purpose of this study was to measure psychological distress in patients receiving chemotherapy, making comparisons on the basis of age, gender, marital status, and chemotherapy dose, and to assess the patients' willingness to continue with treatment. METHODOLOGY: A descriptive cross-sectional study was performed on outpatients receiving chemotherapy beyond the first dose at the Radiation & Isotopes Centre Khartoum (Rick). Data were collected via a face-to-face interview with the patients using the Hospital Anxiety and Depression Scale. RESULTS: Among patients undergoing chemotherapy, 55 (25.5%) experienced anxiety and depression. Of the 216 patients recruited, the majority were middle-aged (30-50 years old) married women. Development of psychological distress followed a U-shaped curve in relation to the number of chemotherapy doses received. Patients who received 1-5 and >10 doses experienced more psychological distress than those who received 6-10 chemotherapy doses. As many as 212 (98%) patients were willing to continue with chemotherapy. CONCLUSION: In our study, psychological distress burdened a quarter of the patients receiving chemotherapy. Psychological distress plays a role in cancer recurrence and recovery; thus, there is a need for a holistic approach to the management of patients with cancer, including psychological evaluation to identify those at risk.

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