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1.
Nucleic Acids Res ; 50(D1): D211-D221, 2022 01 07.
Artículo en Inglés | MEDLINE | ID: mdl-34570238

RESUMEN

Small non-coding RNAs (sncRNAs) are pervasive regulators of physiological and pathological processes. We previously developed the human miRNA Tissue Atlas, detailing the expression of miRNAs across organs in the human body. Here, we present an updated resource containing sequencing data of 188 tissue samples comprising 21 organ types retrieved from six humans. Sampling the organs from the same bodies minimizes intra-individual variability and facilitates the making of a precise high-resolution body map of the non-coding transcriptome. The data allow shedding light on the organ- and organ system-specificity of piwi-interacting RNAs (piRNAs), transfer RNAs (tRNAs), microRNAs (miRNAs) and other non-coding RNAs. As use case of our resource, we describe the identification of highly specific ncRNAs in different organs. The update also contains 58 samples from six tissues of the Tabula Muris collection, allowing to check if the tissue specificity is evolutionary conserved between Homo sapiens and Mus musculus. The updated resource of 87 252 non-coding RNAs from nine non-coding RNA classes for all organs and organ systems is available online without any restrictions (https://www.ccb.uni-saarland.de/tissueatlas2).


Asunto(s)
MicroARNs/genética , ARN Largo no Codificante/genética , ARN Interferente Pequeño/genética , ARN Nuclear Pequeño/genética , ARN Nucleolar Pequeño/genética , ARN de Transferencia/genética , Programas Informáticos , Animales , Atlas como Asunto , Femenino , Humanos , Internet , Masculino , Ratones , MicroARNs/clasificación , MicroARNs/metabolismo , Especificidad de Órganos , ARN Largo no Codificante/clasificación , ARN Largo no Codificante/metabolismo , ARN Interferente Pequeño/clasificación , ARN Interferente Pequeño/metabolismo , ARN Nuclear Pequeño/clasificación , ARN Nuclear Pequeño/metabolismo , ARN Nucleolar Pequeño/clasificación , ARN Nucleolar Pequeño/metabolismo , ARN de Transferencia/clasificación , ARN de Transferencia/metabolismo , Transcriptoma
2.
Nucleic Acids Res ; 49(W1): W397-W408, 2021 07 02.
Artículo en Inglés | MEDLINE | ID: mdl-33872372

RESUMEN

Analyzing all features of small non-coding RNA sequencing data can be demanding and challenging. To facilitate this process, we developed miRMaster. After the analysis of over 125 000 human samples and 1.5 trillion human small RNA reads over 4 years, we present miRMaster 2 with a wide range of updates and new features. We extended our reference data sets so that miRMaster 2 now supports the analysis of eight species (e.g. human, mouse, chicken, dog, cow) and 10 non-coding RNA classes (e.g. microRNAs, piRNAs, tRNAs, rRNAs, circRNAs). We also incorporated new downstream analysis modules such as batch effect analysis or sample embeddings using UMAP, and updated annotation data bases included by default (miRBase, Ensembl, GtRNAdb). To accommodate the increasing popularity of single cell small-RNA sequencing data, we incorporated a module for unique molecular identifier (UMI) processing. Further, the output tables and graphics have been improved based on user feedback and new output formats that emerged in the community are now supported (e.g. miRGFF3). Finally, we integrated differential expression analysis with the miRNA enrichment analysis tool miEAA. miRMaster is freely available at https://www.ccb.uni-saarland.de/mirmaster2.


Asunto(s)
ARN Pequeño no Traducido/química , Análisis de Secuencia de ARN/métodos , Animales , Bovinos , Demencia/genética , Perros , Humanos , Ratones , MicroARNs , ARN Pequeño no Traducido/metabolismo , Ratas , Programas Informáticos
3.
Ann Med Surg (Lond) ; 86(3): 1798-1804, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38463128

RESUMEN

Introduction and importance: Intimomedial mucoid degeneration is a rare vascular disorder first depicted in 1977. It involves mucin deposition in arterial layers. This will cause elastic tissue degeneration and aneurysm formation. This pathology predominantly affects the aorta. However, it could involve other smaller vessels. Surgical treatment could become complicated by a bleeding diathesis. Therefore, a precise surgical technique is necessary to avoid the ensuing complications. Case presentation: We present the case of a previously healthy 27-year-old Middle Eastern male who presented to our surgical clinic following the incidental discovery of an infrarenal abdominal aortic aneurysm following a blunt trauma to the left flank incurred during a fall. Preoperative radiology unveiled a dissecting an infrarenal aortic aneurysm with a concurrent dissection flap at the left renal artery level. Furthermore, an additional dissection flap was observed at the abdominal aortic bifurcation devoid of thrombosis. Clinical discussion: We planned to perform a bilateral aortoiliac bypass. However, due to the fragility of the artery wall, bleeding diathesis, and the tearing that occurred due to the anastomotic suture, the irreparable tear in the anastomosis complicated the situation, we decided to ligate the aorta and perform an axillary-bi-femoral bypass. Conclusion: Intimomedial mucoid degeneration presenting as a dissecting infrarenal abdominal aortic aneurysm is an exceptionally rare pathology. This underscores the crucial need for extensive epidemiological research to document and raise awareness about these cases. Our literature review confirms that our case is the first documented instance in our country, and this emphasizes the significance of our findings.

4.
Ann Med Surg (Lond) ; 86(3): 1771-1777, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38463087

RESUMEN

Introduction and importance: Ectopic pelvic kidneys are an extremely rare congenital renal system anomaly. This embryological occurrence transpires between the 4th and 8th gestational weeks, and is seen in 1 in every 2100-3000 births. Moreover, research articles indicate an incidence of ectopic pelvic kidneys ranging from 0.033 to 0.047%. The co-occurrence of this anomaly with an abdominal aortic aneurysm is an even rarer finding. Case presentation: We report a rare case involving a 62-year-old Middle Eastern male with a right ectopic pelvic kidney. The condition initially manifested as vague abdominal discomfort in the periumbilical region. The pain evolved into a continuous, localized, and insidious sensation. This was escorted by the perception of a pulsatile abdominal mass. Preoperative radiology illustrated a right ectopic pelvic kidney with concomitant aortoiliac aneurysms. Clinical discussion: Via a successful surgical intervention, the abdominal aortic aneurysms were repaired via synthetic Dacron grafts and the renal perfusion to the ectopic pelvic kidney was secured. Moreover, the aneurysmal wall underwent a full histopathological analysis, and the results of which indicated an atherosclerotic cause. Conclusion: Ectopic pelvic kidneys are an exceptionally rare congenital anomaly, especially when coupled with life-threatening co-occurrences like an abdominal aortic aneurysm. The need for timely surgical interventions is critical, and this topic requires comprehensive documentation as a guide for surgical professionals. This unique case is the first documented instance in the country. It emphasizes the fundamental role of proper intraoperative techniques in repairing aneurysmal conditions while preserving the function of the ectopic kidney.

5.
Int J Surg Case Rep ; 118: 109633, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38626641

RESUMEN

INTRODUCTION AND IMPORTANCE: Multiple Hereditary Exostoses is a rare autosomal dominant bone disorder that predominantly affects males at an incidence of (1:50,000 to 1:100,000) in Western populations. The etiology is owed to mutations in the EXT gene group, specifically EXT1 and EXT2 which cause the formation of Osteochondromas. Diagnosis is typically established in childhood. Nevertheless, vascular complications are extremely rare while being potentially fatal. Therefore, timely diagnosis and treatment are vital for such patients. CASE PRESENTATION: We present the case of a 37-year-old Middle Eastern male with Multiple Hereditary Exostoses who experienced sudden-onset left lower limb pain persisting for a month prior to admission. It was associated with coldness and paresthesia of the ipsilateral lower limb. The presurgical radiological workup uncovered a popliteal pseudoaneurysm subsequent to Multiple Hereditary Exostoses. CLINICAL DISCUSSION: Through open surgery, the vascular perfusion was successfully restored, and a subsequent supra- to infra-geniculate popliteal artery anastomosis via saphenous vein grafting was done. Furthermore, the Osteochondroma was utterly resected to limit recurrence of another vascular injury. The following histopathological analysis confirmed the diagnosis of an Osteochondroma as a result of MHE. CONCLUSION: Multiple Hereditary Exostoses is a rare occurrence leading to pseudoaneurysms. This event underscores the need for further documentation to aid in establishing a prompt diagnosis and carrying out suitable interventions. Considering this pathology in a multidisciplinary approach ensures proper treatment. Following a comprehensive literature review, our case stands as the first case in the published literature from our country which emphasizes its value and rarity.

6.
Int J Surg Case Rep ; 116: 109392, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38367420

RESUMEN

INTRODUCTION AND IMPORTANCE: Primary pancreatic hydatid cysts are exceptionally rare as they have an incidence rate ranging from 0.14 % to 2 %. Due to their extreme rarity, the patient's clinical manifestations are nonspecific. This leads to misdiagnosis and delay in treatment. Therefore, a multidisciplinary approach is necessary for the proper treatment of this pathology. CASE PRESENTATION: Herewith, we present the rare case of a 46-year-old Middle Eastern female who sought medical attention at our surgical clinic complaining of an acute on-top-of chronic epigastric pain that radiated to the back. It was associated with a reported dark and pale discoloration of the urine and stool, respectively. The preoperative investigative radiological analysis identified a primary pancreatic body mass formation. CLINICAL DISCUSSION: A meticulous surgical resection of the pancreatic body, tail, and the spleen was performed. Subsequent histopathological analysis of the excised specimens decisively established the diagnosis of a primary pancreatic body hydatid cyst. CONCLUSION: Primary pancreatic hydatid cysts are profoundly rare, and their occurrence in the pancreatic body is even rarer. The profound scarcity of published literature on primary pancreatic body hydatid cysts highlights the imperative need for documentation, epidemiological studies, and the development of crucial interventional protocols. After a meticulous review of the published literature, we deduced that ours is the third documented case from our country of a primary pancreatic body hydatid cyst. Furthermore, no other cases beyond these three have been published from our country involving primary pancreatic hydatid cysts.

7.
Ann Med Surg (Lond) ; 86(2): 1166-1172, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38333278

RESUMEN

Introduction and importance: Thoracoabdominal duplication and intestinal malrotation are extremely rare congenital alimentary tract anomalies that can manifest in any segment of the gastrointestinal tract. Still, tubular duplications are an even rarer subset of alimentary tract duplications. Misdiagnosis could occur and this will yield devastating ramifications. Therefore, consideration in the clinical settings is warranted to aid in conducting timely therapeutic interventions. Case presentation: In this article, we illustrate the overwhelmingly rare occurrence of thoracoabdominal duplication coexistent with intestinal malrotation in a 7-month-old male whose primary complaint was chronic dyspnoea since birth that progressed to involve cough and fever. Imaging analysis revealed a significant intrathoracic fluid-filled cyst. Clinical discussion: The intestinal malrotation was treated through Ladd's procedure, and surgical excision of the duplicated segments was accomplished. The subsequent analysis of the resected specimens via means of histopathology utilizing Hematoxylin and Eosin dyes established the definitive diagnosis of a foregut duplication cyst. Conclusion: Thoracoabdominal duplication is one of the most crucial topics in the field of Paediatric Surgery. It is exceptionally rare in occurrence, and the scarcity of available resources that document and describe this topic is evident in the published literature. The authors must opt to document, study, and broaden awareness regarding this life-threatening pathology so that they can circumvent the resultant complications by means of early detection and the performance of apt surgical interventions. Upon careful review of the available literature, we can state that ours is the first-ever case documented from their country regarding this topic and this co-incidence.

8.
Ann Med Surg (Lond) ; 86(1): 602-606, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38222723

RESUMEN

Introduction and importance: A primary congenital splenic epidermoid cyst is an immensely rare pathology with mostly unknown epidemiological parameters. Misdiagnosis can easily happen and this results in life-threatening ramifications for patients. Considering this pathology as a potential differential diagnosis allows for the required surgical intervention to be timely accomplished. In this case, the authors are documenting this pathology and presenting how it was successfully managed via proper and informed preoperative analysis and meticulous intraoperative technique. Case presentation: Hereby, we portray the exceptionally rare case of a 7-year-old male who presented to our surgical clinic complaining of a sudden left hypochondriac pain with early satiety for 1 month's duration. The preoperative radiological assessment displayed numerous splenic cystic lesions throughout the splenic parenchyma. Clinical discussion: Resection of the cysts was accomplished via total splenectomy. The ensuing histopathological analysis via Hematoxylin and Eosin of the resected specimens established the diagnosis of a congested hemorrhagic spleen with multiple primary congenital splenic epidermoid cysts. Conclusion: Primary congenital splenic epidermoid cysts are an extremely rare type of splenic pathology. There is profound scarcity amidst the published literature regarding it. This merits in-depth study and apt documentation to raise awareness regarding this pathology as a potential differential diagnosis in cases of abdominal pain. Documentation allows us to set up proper and innovative clinical and surgical protocols for these patients. Based on our conclusive review of the published literature, the authors conclude that ours is the first ever documented case from our country of a primary congenital splenic epidermoid cyst.

9.
Int J Surg Case Rep ; 115: 109310, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38281378

RESUMEN

INTRODUCTION AND IMPORTANCE: Angiosarcomas are an exceedingly rare and malignant form of soft tissue sarcoma that are derived from endothelial cells. Overall, they comprise <1 % of the total number of soft tissue sarcomas. Due to nonspecific and misleading symptoms, the subsequent clinical presentations can easily result in misdiagnosis. This leads to life-threatening complications for patients. Contemplating this tumor as a differential diagnosis during the preoperative phase allows for essential time-sensitive therapeutic interventions to be accomplished. CASE PRESENTATION: Herein, we present the seldom precedented case of a 66-year-old Middle Eastern male who came to our surgical clinic chiefly complaining of an exacerbation of chronic left hypochondriac pain accompanied by gradual inexplicable abdominal distention. Our diagnostic radiological evaluation demonstrated two isolated abdominal mass formations. CLINICAL DISCUSSION: Sheer excision of the neoplastic masses with safety margins was successfully executed via open surgery. The stemming histopathological examination through Hematoxylin and Eosin and immunohistochemical staining established the definitive diagnosis of an Epithelioid Angiosarcoma. CONCLUSION: Epithelioid Angiosarcomas belong to the category of profoundly rare tumors. The available published literature conveys this rarity through the scarcity of epidemiological parameters and studies. It necessitates being borne in mind when facing similar clinical scenarios so that apt therapeutic interventions can be achieved. Structured diagnostic methods, timely surgical interventions and proper techniques, and comprehensive follow-up patient surveillance protocols are, therefore, merited. After thorough review of the published literature, we reckon herewith that ours is the first documented case from our country of an Epithelioid Angiosarcoma.

10.
Int J Surg Case Rep ; 105: 108090, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37004451

RESUMEN

INTRODUCTION AND IMPORTANCE: A choledochal cyst is a rare congenital biliary tract pathology. It displays an evident dilation that could arise in any part along the biliary tree. Its incidence rate reflects its rarity when it takes place in 1 per 100,000-to-150,000 newborns. 75 % of them are detected in early childhood, whereas around 20 % are identified and diagnosed in adulthood. The gender-specific predominance favors females over males with an almost 4:1 ratio. Our case is of an adolescent male, and this constitutes a rare variant of the previous criteria. Furthermore, the distal end of the common bile duct could not be identified. CASE PRESENTATION: We present the case of a 15-year-old previously healthy male, who presented to our surgical clinic complaining of chronic dull aching pain in the right hypochondrium. Preoperative radiological analysis revealed a choledochal cyst. CLINICAL DISCUSSION: Surgical intervention was achieved to excise the lesion and comprehensive histopathological analysis was a key element to establish a definitive diagnosis. CONCLUSION: Choledochal cysts are rare biliary anomalies. Its non-specific symptoms lead to misdiagnosis. Consequently, suitable clinical evaluation escorted by comprehensive radiological imaging is essential to suspect this pathology and swiftly treat it. This anomaly predominantly occurs in females and is chiefly discovered during childhood. Our case is a prime exception to this norm. To the best of our knowledge, this is the first documented case from Syria of an adolescent male affected by a Type I choledochal cyst with an ambiguous end of the distal common bile duct.

11.
Ann Med Surg (Lond) ; 85(8): 4121-4125, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37554875

RESUMEN

A vertebral body erosion that takes place due to a chronic contained rupture of an abdominal aortic aneurysm is an especially rare vascular pathology that comprises less than 5% of all causes of vertebral body erosion. Chronic contained rupture of an abdominal aortic aneurysms are primarily observed in hemodynamically stable patients whose chief complaint is lower limb neuropathic pain. This entity is extremely misleading and this results in delayed management of those patients increasing the morbidity and mortality rates. Case presentation: We present the two cases of 62-year-old and 65-year-old males. Preoperative radiology for each patient showed an infrarenal aortic aneurysm with a retroperitoneal hematoma in contact with the lumbar vertebral bodies and psoas muscle. The draped aorta sign was evident in both cases. Clinical discussion: A curative surgical intervention was accomplished for both patients, respectively. This was achieved through the removal of the existing hematomas that were compressing the vertebrae in addition to the complete isolation and resection of the respective abdominal aortic aneurysms along with thorough reconstruction of the aortoiliac spindles with patent synthetic grafts to ensure the patency of the preexisting vascular axis. Conclusion: A contained rupture of an abdominal aortic aneurysm is a rare occurring vascular pathology that manifests with nonspecific symptoms, such as femoral neuropathy and lower back pain proportionate to the degree of the level of erosion of the affected lumbar vertebrae. This will increase the possibility of misdiagnosis and delays in treatment. Such a life-threatening vascular emergency should be timely detected and treated to avoid its complications and patient mortality.

12.
Int J Surg Case Rep ; 106: 108168, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37058810

RESUMEN

INTRODUCTION AND IMPORTANCE: Solitary Fibrous Tumors are highly rare spindle cell tumors of mesenchymal origin. They comprise <2 % of all types of soft tissue tumors and are characterized by an age-adjusted annual incidence rate of 0.61 per 1 million individuals for extra-meningeal Solitary Fibrous Tumors. The disease course is mostly asymptomatic but can still present with non-specific symptoms. This results in misdiagnosis and delayed treatment. In turn, morbidity and mortality rises and it will constitute a clinical and surgical burden for the affected patients. CASE PRESENTATION: We present the case of a 67-year-old female who has a known history of controlled hypertension, who presented to our hospital complaining of non-specific pain in her right flank and lower lumbar region. Our preoperative diagnostic radiological workup demonstrated an isolated antero-sacral mass. CLINICAL DISCUSSION: Comprehensive excision of the mass was laparoscopically achieved. Following the necessary analysis via histopathology and immunohistochemistry, we definitively established the diagnosis of an isolated primary benign Solitary Fibrous Tumor. CONCLUSION: To the best of our knowledge, no previous cases of SFTs from our country were documented. Clinical suspicion and complete surgical resection are vital determinants in treatment of such patients. Further research and documentation are warranted to set-up the necessary guidelines for preoperative assessment, intraoperative techniques, and adequate follow-up protocols to limit the ensuing morbidity and to detect any possible neoplastic recurrence.

13.
Int J Surg Case Rep ; 105: 108025, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36989635

RESUMEN

INTRODUCTION AND IMPORTANCE: Paraganglioma (PG); also known as Glomus Tumor, is a rare neoplastic entity that originates from neural crest cells. It can manifest in different patterns, chiefly benign but others are locally invasive and malignant in behavior. Due to the prevalence of other more common types of neck masses and Paraganglioma's exceeding rarity, misdiagnoses can easily take place, and this results in higher patient morbidity and mortality rates. Preoperative diagnosis constitutes a major clinical challenge, especially in patients with a previous surgical history in the neck region like our patient. CASE PRESENTATION: We are hereby presenting the case of a 56-year-old female with a known history of total thyroidectomy, who presented to our department with a progressively growing painful recurring neck mass two years following her total thyroidectomy. The preoperative diagnostic assessment revealed two unilateral synchronous masses encapsulating the Right Common Carotid Artery and occupying the common carotid bifurcation. CLINICAL DISCUSSION: Complete surgical resection of the lesions after isolation from the surrounding anatomical structures was done. Subsequent histopathological and immunohistochemical analyses of the specimens established the diagnosis of a Carotid Body Tumor (CBT). CONCLUSION: CBTs are rare vascular neoplasia, and they possess the potential for malignant transformation. This neoplasia warrants investigation and documentation to establish innovative diagnostic parameters and accomplish timely surgical interventions. To the best of our knowledge, this is the first documented case of a unilateral synchronous malignant Carotid Body Tumor from Syria. Surgery remains the treatment of choice, while radio-/chemotherapy is reserved for non-surgical cases only.

14.
Ann Med Surg (Lond) ; 85(2): 231-235, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36845764

RESUMEN

Cystic Lymphangiomas (CLs) are rare vascular anomalies of benign nature. The etiology remains a subject of controversy, but they are considered to arise due to anomalies that occur during the normal embryogenic developmental process of lymphatic vessels. They have an estimated incidence rate of merely 1 in every 20,000-250,000 individuals. Since they are mainly known as a disease of the pediatric population, accurate epidemiological rates of CLs, especially in adults, are still unidentified due to the scarcity of published data. Documentation is pivotal to collect further information about them to establish timely diagnoses and minimize the potentially high patient morbidity. Case Presentation: The authors hereby demonstrate the case of a 46-year-old lady who presented to the outpatient general surgery clinic at our university hospital complaining of chronic right hypochondriac abdominal pain. Investigative radiological imaging marked a cystic formation with well-defined borders and homogenous content extending from the lower pole of the right kidney to the lower hepatic border. Clinical Discussion: Surgical intervention was performed by completely resecting the lesion in question. Directly afterward, histopathological analysis was achieved and established the diagnosis of a CL.Conclusion:CL is a rare neoplasm with ill-defined symptoms and ambiguous clinical presentations. They remain poorly studied due to their rarity and lack of sufficient data in the published literature. This magnifies the importance of clinical awareness and time-efficient surgical intervention. Documenting these cases aids in identifying their subsequent etiological origins, disease-specific risk factors, clinical course, and yields proposals of novel therapeutic approaches.

15.
Ann Med Surg (Lond) ; 85(7): 3739-3743, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37427164

RESUMEN

Ovarian fibrothecoma are a mostly benign and profoundly rare type of gonadal stromal cell tumor. It makes up 3-4% of all kinds of ovarian neoplasia. They are predominantly unilateral in origin and mostly present in women during the postmenopausal phase. Our case is especially important because the tumors occurred bilaterally and were associated with ascites. This seldom happens in patients with ovarian fibrothecoma. Early identification and treatment are key components to avoid the subsequent complications of this tumor. Case presentation: We present the case of a 54-year-old female who presented complaining only of a slow progressive increase in the abdominal contour associated with vague abdominal pain. Our preoperative radiological imaging revealed multiple ovarian and uterine masses. Clinical discussion: Surgical intervention in the form of a hysterectomy with bilateral salpingo-oophorectomy was achieved. Histopathological analysis revealed bilateral benign ovarian fibrothecoma with benign uterine leiomyomas. The patient underwent an uneventful postoperative recovery. Conclusion: Ovarian Fibrothecoma is a rare gynecological pathology. The uniqueness of our case stems from the rarity of its bilateral occurrence and in rare occasions, their occurrence is accompanied by ascites. This kind of co-occurrence should be differentiated from other rare presentations, such as Meigs Syndrome. Therefore, documentation is necessary to circumvent misdiagnoses and to abate the resulting patient morbidity. To further highlight the value of our case, it is to the best of our knowledge, the first documented case of this pathology from our country.

16.
Ann Med Surg (Lond) ; 85(4): 1041-1046, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37113838

RESUMEN

Any defect in the early phases of the normal complex embryogenic pathway might lead to anatomical anomalies that lead to the formation of ectopic thyroid gland tissue. Overall, ectopic thyroid tissue incidence is one in 300 000, and the rate of malignant transformation among those is merely 1%. However, documented cases of malignant transformation of ectopic thyroid tissue in the tonsils have not yet been - to the best of the knowledge - documented in published literature. Case Presentation: We illustrate the case of a 58-year-old female who was referred to the clinic after she underwent a tonsillectomy due to chronic discomfort and gradual difficulty in swallowing. Documentation of an ectopic primary Papillary Thyroid Carcinoma in one of the patient's excised tonsils was achieved after thorough histopathological and immunohistochemical analyses took place. Radiological evaluation excluded any metastatic involvement and paved the path toward surgical intervention, which was comprised of a total thyroidectomy. Clinical Discussion: Surgical resection of the patient's thyroid gland was achieved, and the subsequent histopathological analysis of the specimens revealed nodular hyperplasia with degenerative changes but without evidence of malignant transformation in her thyroid gland. Conclusion: Ectopic primary Papillary Thyroid Carcinoma is an immensely rare occurrence, regardless of population parameters. Its incidence could originate in various anatomical locations, but to the best of the knowledge, its incidence in the tonsils has not been previously documented in published literature. Adequate levels of clinical awareness in this situation could timely alleviate patient complaints and aid in performing optimal life-saving interventions.

17.
Ann Med Surg (Lond) ; 85(11): 5736-5741, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37915663

RESUMEN

Introduction and importance: Retroperitoneal neoplasia comprise less than 2% of all tumours. benign primary retroperitoneal mucinous cystadenoma (PRMC) is an extremely rare tumour. Their clinical course is overall silent unless the patient presents with a vague abdominal or pelvic pain, abdominal distention, or a palpable mass. Their aetiology remains theorized and since 1989, only 46 cases (excluding ours) worldwide were documented in the literature. The majority of cases were discovered in females but the overall tumour incidence rate is still undetermined due to its rarity. Well-timed recognition of this pathology permits the necessary curative surgical intervention to take place. Case presentation: We hereby illustrate the rare case of a 23-year-old female who presented to the surgical clinic complaining solely of an unexplained gradual increase of the abdominal contour. Their presurgical radiological analysis yielded an intraabdominal large-sized well-demarcated retroperitoneal mass. Clinical discussion: Thorough resection of the mass was accomplished via open surgery. The subsequent microscopic analysis of excised tumour yielded the diagnosis of primary retroperitoneal mucinous cystadenoma of benign nature. Conclusion: Primary retroperitoneal mucinous cystadenoma is a seldom seen tumour. The scarcity of its occurrence is further highlighted by the published data. Based on their conclusive review of the available published English-based literature, ours is the 47th documented case of a benign PRMC and it is the first documented case from our country; Syria. The impact of these findings warrants raising awareness on the subject and considering PRMC as a differential diagnosis when presented with a similar case in the clinical practice.

18.
Ann Med Surg (Lond) ; 85(4): 1206-1212, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37113963

RESUMEN

Bouveret Syndrome (BS) is a rare type of gallstone ileus, where a gallstone passes via a cholecystoduodenal fistula and causes gastric outlet obstruction. It comprises 0.3-0.5% of cholelithiasis complications. It primarily affects females with an average incidence age of 74 years. Gastric Neuroendocrine Tumors (G-NETs) make up merely 2% of all forms of gastric neoplasia and are known to be an extremely rare occurrence. Their annual incidence is estimated to be one to two per 1 million individuals, and they comprise 8.7% of all known neuroendocrine neoplasia of the gastrointestinal system. Case presentation: We present the case of a 44-year-old Middle Eastern female who presented to the clinic due to multiple episodes of food containing biliary nonprojectile emesis accompanied by epigastric pain. Preoperative radiological workup revealed a Bezoar blocking the gastric outlet and a G-NET in the mucosal layer of the stomach. Clinical discussion: Surgical intervention consisted of excising the impacted calculus to relieve the existing gastric outlet obstruction simultaneous to performing an uncut Roux-en-Y to treat the G-NET condition. The patient underwent complete recovery. Conclusion: BS is an extremely rare form of gallstone ileus and gastric outlet obstruction. Its clinical presentation is nonspecific and results in misdiagnosis. Additionally, it is rare to occur in our patient's age group. NETs are also profoundly rare forms of neoplasia. To the best of our knowledge, no previous cases of simultaneous BS and G-NET have been documented. Therefore, clinical awareness should be raised to timely implement the necessary therapeutic interventions.

19.
Int J Surg Case Rep ; 105: 108058, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36989625

RESUMEN

INTRODUCTION AND IMPORTANCE: Solid Pseudopapillary Tumors of the Pancreas is an extremely rare pancreatic neoplastic entity that makes up barely 3 % of all types of exocrine pancreatic neoplasia. Symptoms vary and none of them are specific or pathognomonic for the disease. Therefore, delayed treatment or misdiagnoses could be the result. In turn, patients' morbidity and mortality significantly rise. Diagnosing or suspecting this type of critical type of neoplasia in the preoperative phase is a key component to performing appropriate and curative surgical interventions that result in increased patient survivability. CASE PRESENTATION: We hereby present the rare case of a previously healthy 20-year-old female whose chief complaints were chronic epigastric and left hypochondriac region pain and discomfort along with loss of appetite. During our preoperative radiological investigation, we found a cystic mass with well-defined borders located between the head of the pancreas and the second part of the duodenum. It measured (63 × 45 mm). No metastasis or lymph node involvement was elicited. CLINICAL DISCUSSION: The tumor was utterly resected via a successful Whipple procedure. A definitive diagnosis of a Solid Pseudopapillary Tumor was reached following meticulous histopathological and immunohistochemical analysis of the resected specimens. CONCLUSION: Based on our review of the published literature, no previously published cases from our country of pancreatic Solid Pseudopapillary Tumors exist. Documentation of this rare neoplasia is warranted to raise awareness and to establish the necessary clinical protocols to optimally diagnose, timely treat, and adequately follow up on patients who present with this malignancy.

20.
Int J Surg Case Rep ; 95: 107253, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-35661499

RESUMEN

INTRODUCTION AND IMPORTANCE: Elastin is a major protein of the Extracellular Matrix (ECM), essential in providing elasticity to the vascular wall, which enables blood vessels to reversibly expand and contract. Several inherited or acquired etiologies, such as elastinopathies and fibrillinopathies negatively impact the objective of the Extracellular Matrix via compromising the Elastin fibers in the Cardiovascular System (CVS) and the skin. Such compromises will have devastating ramifications through the increase in vascular wall stiffness and the inability to properly dissipate energy. This impact on the vascular wall will contribute to the development of arterial aneurysms and dissections. CASE PRESENTATION: Our case is of a 36-year-old previously healthy male patient who presented with an acute onset of left lower limb pain associated with cold sensation two days prior to admission. Radiology demonstrated a dissecting aneurysm in the left Common Iliac Artery. CLINICAL DISCUSSION: The patient was surgically treated with an Aorto-bi-Femoral Bypass (ABFB). Histopathological analysis of the excised aortic and iliac specimens revealed no Elastin fibers in the vessel walls. CONCLUSION: Isolated Iliac aneurysms are a rare entity and are challenging to diagnose preoperatively. In our case, there were no risk factors whatsoever and the patient's history - including family history - was negative. It is vital to establish preoperative diagnostic approaches in such cases and keep them in mind so that we can diminish the morbidity and mortality resultants from the complications.

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