Biomedicine & Healthcare Research

Usefulness of Next-Generation Sequencing for precision medicine in cancers: Report of three familial cases

Fatima Maarouf — 2024-07-30

High-throughput next-generation sequencing has revolutionized cancer molecular diagnosis and research. Indeed, molecular analysis revealed that the same type of tumor may exhibit diverse molecular subgroups. This technology enables the identification of novel specific genes implicated in tumor progression. Moreover, identification of specific mutations and active molecular pathways play a crucial role in identifying new drug targets. The present study highlights the clinical utility of next-generation sequencing in the management of cancer by reporting three patients with family cancer history (Li-Fraumeni syndrome, breast cancer, and colon cancer), observed in the Medical Genetics Department of Ibn Rochd University Hospital in Casablanca, Morocco.

A pulmonary hernia against pressure regime: a residual cavity related complication following liver hydatic cyst surgery: Case Report

Mohamed Ali MSEDDI — 2024-07-30

Echinococcosis raises a public health issue in many countries, although it is, in principle, preventable, treatable and eradicable. Surgery is the keystone of its treatment. Conservative procedures offer fewer per-operative complications but predisposes to post-operative complications. Herein we report an unprecedented complication of the residual cavity: an intra-abdominal transdiaphragmatic pulmonary hernia occurring 3 years after the index surgery. A 64-year-old woman with no relevant medical history, consulted for dull hepatalgia with no respiratory complains. Radio-imaging concluded to a pulmonary hernia into the residual cavity. Taking into consideration the well tolerated abdominal discomfort and the potentially risky surgery, she was scheduled for a close follow-up. To our best knowledge, this is the first publication of intra-abdominal pulmonary hernia. Normally, herniation follows the pressure gradient present between thoracic and abdominal cavities. The consequences can be dreadful because of the threat to the pulmonary parenchyma, from the reduction of its functional capacity to its necrosis. Operation will be restricted to cases of functional respiratory repercussions or important pulmonary contusion

Penile squamous cell carcinoma: How to identify metastatic inguinal lymph nodes in ¹⁸FDG PET/CT?

Khawla Ben Ahmed — 2024-07-30

Penile cancer (PC) is a rare neoplasm accounting for 2% of all cancers among men. With this highly lymphophilic tumor, inguinal node metastases are the most relevant prognostic factor and are associated with decreased survival. The PC evaluation presents a major challenge for therapeutic strategy. Here, we report the case of a 73-year-old man who was discovered with a process of the glans. The histopathological results concluded to be a penile squamous cell carcinoma (PSCC). An MRI scan showed a penile tumor process classified as T4Nx, with the presence of hypertrophic inguinal lymph nodes, which were not clearly suspicious. He was operated by total penectomy followed by perineostomy. The tumor was classified as pT3Nx. An 18F-fluorodeoxyglucose (118FDG) positron emission tomography / computed tomography (PET/CT) was requested to explore the metabolic pattern of these lymph nodes. 18FDG-PET/ CT demonstrated suspicious bilaterally hypermetabolic inguinal nodes, in favor of their metastatic nature and a non-specific hypermetabolism of the penile root. The decision of the urologist was to complete with an inguinal lymphadenectomy.

Sacro-coccygeal teratoma: about an observation and diagnostic process

Nadia Marouen — 2024-07-30

Sacro-coccygeal teratomas (SCT) are the most common benign fetal tumors with an incidence of about 1/3000 births. Currently, thanks to advances in imaging techniques, diagnosis can be made in the first trimester of pregnancy. We report the case of Mrs. JF, a 25-year-old primigravida female, with no significant pathological history, a primigravida who had consulted the radiology department of the maternity hospital of Kairouan, at 16 weeks of amenorrhea, to do a prenatal ultrasound. On examination, it was a progressive monofetal pregnancy of 16 weeks of amenorrhea, with discovery of a cystic formation about 3 cm in diameter, well limited, located in the sacro-coccygeal region. A complementary Magnetic Resonance Imaging (MRI) scan showed a well-defined mass measuring 24x17mm, which was hyper intense on T1, attached to the caudal end of the fetus, at the presacral space, with an extension downwards to the soft parts, with no endopelvic component or fat component. In the presence of these radiological data, a sacro-coccygeal teratoma was first suspected, but a meningocele could not be formally eliminated, due to the limits of these examinations. The collegial decision was therefore to authorize the continuum of the pregnancy. The patient was monitored on an outpatient basis with regular clinical and ultrasound check-ups. Pregnancy continued up to 40 weeks. The baby was operated on, at 2 weeks of age, with complete removal of the tumor. The pathological examination of the surgical specimen was in favor of a mature cystic sacrococcygeal benign teratoma, without signs of malignancy.

A confusing testicular tumor: a case report

Salwa Nechi — 2024-07-30

Cavernous hemangioma is a benign tumor that may occur in any part of the body. Its occurrence in the testicular parenchyma is extremely rare. Patients may present with testicular mass mimicking a malignant testicular tumor. In some cases, patients present with acute onset. We report the case of a 51-year-old male who presented with a solid and edematous testicular mass evolving for 4 months. Radiological presentation was not specific, the ultrasound examination objectified a large hetero-echogeneous mass. Tumor markers including α-fetoprotein, β-human chorionic gonadotropin and LDH were normal. A malignant testicular tumor was suspected. Therefore, the patient underwent radical right orchidectomy. Gross examination of the specimen revealed a well circumscribed intratesticular nodule with hemorrhagic cut surface. However, pathological examination revealed a benign testicular tumor composed of dilated thin-walled cavernous vascular spaces filled with red blood cells, compatible with the diagnosis of testicular cavernous hemangioma.

Maternal knowledge and practices regarding amoebiasis in Kut City, Middle Iraq

Rawaa KamelAbd — 2024-07-30

Amoebiasis is a real public health problem and a major public health threat in many regions, particularly in developing countries. The present study was conducted to assess mothers' levels of knowledge about this parasitosis. A cross-sectional study was carried out on mothers whose children were suffering from amoebiasis and who consulted on an ongoing basis at seven basic healthcare centers in the city of Kut during the period from June 1, 2022, to September 31, 2022. The results show that the average age of the mothers was 24.8 years (standard deviation = 6.46) and that the 20–29 age range presented the highest percentage (73.3%). In terms of level of education, a higher percentage of mothers had an average level of schooling (39.2%). More than half of the mothers were employed; 39.2% of them were in the public sector and 21.7% in the private sector. The results showed that 65.8% and 72.5% of mothers expressed low knowledge (61.25; SD = 11.43) and low practice (30.68; SD = 9.300), respectively. Levels of knowledge and practice were unsatisfactory among mothers of children with amebiasis. This study highlights the importance of raising mothers' awareness of amoebiasis. Efforts should be made to improve knowledge and provide the necessary support to ensure better diagnostic and therapeutic management of children with amoebiasis.