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Hydatid disease, caused primarily by Echinococcus granulosus, is prevalent in regions where livestock farming is common. Although typically considered benign, ruptured hydatid cysts into the abdominal cavity present a rare but severe complication requiring urgent surgical intervention. We hydatid liver cyst, emphasizing the unprecedented nature of this occurrence, as it has never been reported in the literature before. The case underscores the role of computed tomography (CT) imaging in diagnosis and multidisciplinary management involving emergency physicians, radiologists, anesthetists, and surgeons. Key points highlighted include the rarity of postpartum hydatid cyst rupture, the diagnostic utility of CT scans, and the necessity of immediate surgical intervention. Surgical strategies include conservative techniques and intraoperative lavage with hypertonic saline solution to prevent recurrence. Postoperative albendazole therapy and regular follow-up aid in preventing recurrence and early detection of complications. This case underscores the importance of suspecting ruptured hydatid cysts in postpartum women with underlying hepatic hydatid cyst and features of peritonitis, necessitating prompt recognition and management of complications in hydatid disease

The management of gastrointestinal complications in patients with complex medical history poses significant challenges to healthcare clinicians. A 42-year-old male patient was admitted to the emergency department with excruciating abdominal pain and signs of bowel obstruction. The patient had a previous history of schizophrenia and esophageal stricture, treated 6 years ago with colonic esophageal interposition. From the computed tomography scan, intussusception of the jejunum in the colonic graft was revealed, which resolved spontaneously after a few hours probably due to the oral contrast. Although, colonic esophageal interposition is a life-saving procedure for long-esophageal strictures, there are rare complications that are still not clearly reported. Jejunocolic intussusception should raise awareness of the clinicians, as one of the potential complications of colonic esophageal interposition.

Encapsulating peritoneal sclerosis (EPS) is a rare pathological entity that can be classified into an idiopathic or secondary affection. Bowel obstruction is a frequent complication that has a characteristic radiological finding, with a cocoon appearance. We present the case of a 40-year-old man who suffered an absolute constipation. He underwent a CT scan that was suggestive of encapsulating peritoneal sclerosis or abdominal cocoon responsible for small bowel obstruction.

Intracranial epidermoid cysts, also referred to as intracranial primary cholesteatomas, are uncommon, benign tumors characterized by slow, linear growth patterns akin to normal epidermal tissue. They typically become symptomatic around age 43, with a slight female predominance, and are most frequently located in the cerebellopontine angle. This summary presents the case of a 62-year-old woman suffering from paroxysmal excruciating pain of the right hemiface, indicative of trigeminal neuralgia, linked to an intracranial epidermoid cyst in the cerebellopontine angle. Radiological assessment, through magnetic resonance imaging, was instrumental in identifying the cyst. Total surgery resection is the most effective treatment, but it can be challenging due to tumor adherence to important neurovascular structures, therefore responsible for an incomplete removal of the proliferative capsule causing a higher risk of recurrence. The case also raises questions about treatment options, as the patient opted against surgical intervention. Managing intracranial epidermoid cysts requires a careful weighing of potential benefits against associated risks.

Xeroderma pigmentosum (XP, OMIM 278700–278780) is a group of autosomal recessive diseases characterized by hypersensitivity to UV rays. There are seven complementation groups of XP (XPA to XPG) and XPV. Among them, the XP group C (XP-C) is the most prevalent type in Western Europe and in the United States. We report here on the clinical and genetic investigation of XP-C patients in 14 Tunisian families. As the XPC V548A fs X572 mutation has been identified in Algerian and Moroccan populations, Tunisian patients were first screened for this mutation by a direct sequencing of exon 9 of the XPC gene. All patients with a severe clinical form had this mutation, thus showing the homogeneity of the mutational spectrum of XPC in Tunisia. A potential founder effect was searched and confirmed by haplotype analysis. Taking into account the similarity of the genetic background, we propose a direct screening of this mutation as a rapid and cost-effective tool for the diagnosis of XP-C in North Africa.Journal of Human Genetics (2009) 54, 426–429; doi:10.1038/jhg.2009.50; published online 29 May 2009 [ABSTRACT FROM AUTHOR]

Direct oral anticoagulant use has increased significantly over the last decade. Their perioperative management is always challenging for the anesthesiologist. Interventional radiology offers an interesting alternative nowadays, especially in emergencies. We report the case of a 52-year-old woman who was admitted to our department to manage a septic shock secondary to an abscessed collection in the right iliac fossa. After a multidisciplinary consultation, given that she was taking anticoagulation medications for venous mesenteric ischemia, it was decided to proceed with computed tomography scan-guided drainage of the collection, which resulted in the evacuation of over 500 cc of pus. This case report emphasizes the importance of interventional radiology and its role in avoiding surgical interventions in risky situations, especially for patients on anticoagulants, or at least to be carried out, in a second step, under better conditions., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Thymoma, a rare tumor originating from thymic epithelial cells in the anterior mediastinum, presents various diagnostic and clinical challenges, particularly when exhibiting unusual invasive behaviors. We report a case involving a 66-year-old woman with progressive dyspnea and a dry cough, where a CT scan revealed a large, lobulated mass in the anterior mediastinum that had extended through the diaphragm into the abdominal cavity, infiltrating the pleura, spleen, and adjacent structures. Histopathological examination confirmed a type B2 thymoma, classified as T3N2M0 stage IV B. The case underscores the importance of early and accurate diagnosis, highlighting the need for a multidisciplinary approach involving radiologists, oncologists, and thoracic surgeons to manage such advanced thymoma cases. The unusual transdiaphragmatic extension into the peritoneum and spleen emphasizes the necessity of considering extensive local invasion in the staging and treatment planning of thymomas, which often necessitates a combination of chemotherapy and radiotherapy before potential surgical intervention., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Skull base osteomyelitis is a rare and serious condition that primarily affects immunocompromised individuals and can be life threatening if not treated promptly. It can have various origins, with the most common being an extension of necrotizing external otitis. It is difficult to diagnose due to a wide array of clinical presentations. Imaging plays an important role in the diagnosis, identification of the possible source of infection, the extent of the disease, the pattern of spread and identification of associated complications. Early diagnosis is crucial to promptly initiate appropriate treatment. We report here a rare case of a 68-year-old patient presenting with skull base osteomyelitis resulting from bilateral otitis media, which is a rare condition., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Craniocervical junction infections are considered a rare condition and can be associated with degradation of the odontoid ligaments and, the risk of a subsequent atlantoaxial subluxation or dislocation. Osteomyelitis at this level is often seen in immunocompromised patients with, intravenous drug use or infective endocarditis. Atlantoaxial subluxation associated with pharyngeal infection or its surrounding tissues is called Grisel's syndrome. We report the case of a 29-year-old man diagnosed with infectious cervico-occipital osteoarthritis complicated by atlantoaxial dislocation, abscesses located in the retropharyngeal space, and the prevertebral space as well as upper cervical epiduritis. Our purpose is to highlight the role of radiologists in diagnosing this rare yet deadly condition., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

The current study focused on the design of an extremely sensitive electrochemical sensor of ascorbic acid based on a mixture of NiAl 2 O 4 -NiO nanoparticles that, produced in a single step using the sol-gel method, on an ITO electrode. This new sensing platform is useful for the detection of ascorbic acid with a wide range of concentrations extending from the attomolar to the molar. SEM micrographs show the porous structure of the NiAl 2 O 4 -NiO sample, with a high specific surface area, which is beneficial for the catalytic performance of the nanocomposite. An XRD diffractogram confirmed the existence of two phases, NiAl 2 O 4 and NiO, both corresponding to the face-centred cubic crystal structure. The performances of the modified electrode, as a biomolecule, in the detection of ascorbic acid was evaluated electrochemically by cyclic voltammetry and chronoamperometry. The sensor exhibited a sensitive electrocatalytic response at a working potential of E = +0.3 V vs. Ag/Ag Cl, reaching a steady-state current within 30 s after each addition of ascorbic acid solution with a wide dynamic range of concentrations extending from attolevels (10 -18 M) to molar (10 mM) and limits of detection and quantification of 1.2 × 10 -18 M and 3.96 × 10 -18 M, respectively. This detection device was tested for the quantification of ascorbic acid in a 500 mg vitamin C commercialized tablet that was not pre-treated.

Cervical spondylotic myelopathy, characterized by chronic spinal cord compression resulting from degenerative spine changes, manifests with a spectrum of neurological and pain symptoms. Despite the complexity of intramedullary spinal cord abnormalities, employing a systematic approach to differential diagnosis, considering factors such as lesion location, cord length, segment involvement, and enhancement pattern, can significantly aid in narrowing down the potential diagnoses, potentially avoiding invasive diagnostic procedures and guiding treatment decisions. This article presents two cases of cervical spondylotic myelopathy characterized by progressive weakness and paraesthesia, exhibiting progressive bilateral upper extremity numbness, tingling, and impaired gait, with cervical myelopathy evident on MRI displaying transverse pancake-like gadolinium enhancement., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% of congenital cases attributed to genetic etiologies. In Tunisia, HI underdiagnosis prevails, primarily due to limited access to comprehensive clinical tools, particularly for syndromic deafness (SD), characterized by clinical and genetic heterogeneity. This study aimed to uncover the SD spectrum through a 14-year investigation of a Tunisian cohort encompassing over 700 patients from four referral centers (2007-2021). Employing Sanger sequencing, Targeted Panel Gene Sequencing, and Whole Exome Sequencing, genetic analysis in 30 SD patients identified diagnoses such as Usher syndrome, Waardenburg syndrome, cranio-facial-hand-deafness syndrome, and H syndrome. This latter is a rare genodermatosis characterized by HI, hyperpigmentation, hypertrichosis, and systemic manifestations. A meta-analysis integrating our findings with existing data revealed that nearly 50% of Tunisian SD cases corresponded to rare inherited metabolic disorders. Distinguishing between non-syndromic and syndromic HI poses a challenge, where the age of onset and progression of features significantly impact accurate diagnoses. Despite advancements in local genetic characterization capabilities, certain ultra-rare forms of SD remain underdiagnosed. This research contributes critical insights to inform molecular diagnosis approaches for SD in Tunisia and the broader North-African region, thereby facilitating informed decision-making in clinical practice., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Mkaouar, Riahi, Marrakchi, Mezzi, Romdhane, Boujemaa, Dallali, Sayeb, Lahbib, Jaouadi, Boudabbous, Zekri, Chargui, Messaoud, Elyounsi, Kraoua, Zaouak, Turki, Mokni, Boucher, Petit, Giraudet, Mbarek, Besbes, Halayem, Zainine, Turki, Tounsi, Bonnet, Mrad, Abdelhak, Trabelsi and Charfeddine.)

Plasmacytoma is a rare plasma cell neoplasm. Whether solitary or associated with multiple myeloma (MM), it rarely involves the skull base, particularly the sphenoid bone. We present a unique case of sphenoid bone plasmacytoma secondary to MM, highlighting diagnostic and therapeutic challenges. A 56-year-old female presented with headaches, vomiting, epistaxis, and cranial nerve deficits. Cerebral imaging revealed a 65-mm tumor infiltrating the sphenoid bone and adjacent structures. Subtotal resection was performed using an endoscopic nasal approach. Histopathology revealed plasmacytoma, and diagnostic workup confirmed MM. By the end of biological exploration, relapse of the sphenoid plasmacytoma was observed, and the patient was successfully treated with radiotherapy, immunochemotherapy, and autologous stem cell transplantation. After 18-month follow-up, sustained complete remission was confirmed. Although rare, the diagnosis of plasmacytoma should be considered in cases of skull base tumors. This localization is highly predictive of MM, warranting comprehensive investigations to initiate prompt and adequate management., Competing Interests: None declared., (Published by Oxford University Press and JSCR Publishing Ltd. © The Author(s) 2024.)

Introduction: Type 2 diabetes (T2D) is a multifactorial disease involving genetic and environmental components. Several genome-wide association studies (GWAS) have been conducted to decipher potential genetic aberrations promoting the onset of this metabolic disorder. These GWAS have identified over 400 associated variants, mostly in the intronic or intergenic regions. Recently, a growing number of exome genotyping or exome sequencing experiments have identified coding variants associated with T2D. Such studies were mainly conducted in European populations, and the few candidate-gene replication studies in North African populations revealed inconsistent results. In the present study, we aimed to discover the coding genetic etiology of T2D in the Tunisian population., Methods: We carried out a pilot Exome Wide Association Study (EWAS) on 50 Tunisian individuals. Single variant analysis was performed as implemented in PLINK on potentially deleterious coding variants. Subsequently, we applied gene-based and gene-set analyses using MAGMA software to identify genes and pathways associated with T2D. Potential signals were further replicated in an existing large in-silico dataset, involving up to 177116 European individuals., Results: Our analysis revealed, for the first time, promising associations between T2D and variations in MYORG gene, implicated in the skeletal muscle fiber development. Gene-set analysis identified two candidate pathways having nominal associations with T2D in our study samples, namely the positive regulation of neuron apoptotic process and the regulation of mucus secretion. These two pathways are implicated in the neurogenerative alterations and in the inflammatory mechanisms of metabolic diseases. In addition, replication analysis revealed nominal associations of the regulation of beta-cell development and the regulation of peptidase activity pathways with T2D, both in the Tunisian subjects and in the European in-silico dataset., Conclusions: The present study is the first EWAS to investigate the impact of single genetic variants and their aggregate effects on T2D risk in Africa. The promising disease markers, revealed by our pilot EWAS, will promote the understanding of the T2D pathophysiology in North Africa as well as the discovery of potential treatments., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Dallali, Boukhalfa, Kheriji, Fassatoui, Jmel, Hechmi, Gouiza, Gharbi, Kammoun, Mrad, Taoueb, Krir, Trabelsi, Bahlous, Jamoussi, Messaoud, Abid and Kefi.)

Background: Xeroderma pigmentosum is an autosomal recessive disease characterized by a high sensitivity to UV radiations. The disease is clinically and genetically heterogeneous, thus making accurate early clinical diagnosis difficult. Although the disease is considered rare worldwide, previous studies have shown that it is more frequent in Maghreb countries. So far, no genetic study has been published on Libyan patients, except three reports limited to clinical descriptions., Methods: Our study, which represents the first genetic characterization of XP in Libya, was conducted on 14 unrelated families including 23 Libyan XP patients with a consanguinity rate of 93%. Blood samples were collected from 201 individuals including patients and their relatives. Patients were screened for founder mutations already described in Tunisia., Results: The two founder Maghreb XP mutations, XPA p.Arg228* associated with the neurological form and XPC p.Val548Alafs*25 in patients with only cutaneous manifestations, were homozygously identified. The latter was predominant (19 of 23 patients). In addition, another XPC homozygous mutation (p.Arg220*) has been identified in only one patient. For the remaining patient, the absence of founder XPA, XPC, XPD, and XPG mutations suggests mutational heterogeneity of XP in Libya., Conclusion: Identification of common mutations with other Maghreb populations is in favor of a common ancestor in North-African populations., (© 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

A 4-year-old boy born from a consanguineous marriage was referred to our department for congenital ichthyosis. He was a collodion baby at birth and progressively developed a generalized erythroderma with fine whitish scales covering his body. Initially, he was diagnosed as having congenital ichthyosiform erythroderma. Physical examination revealed fine white grayish scales with an erythematous background involving the scalp and flexural areas (Figure 1a). His palms and soles depicted hyperlinearity (Figure 1b). His hair, teeth, nails, and mucosa were normal. Abdominal examination revealed hepatomegaly, and the liver was enlarged by 4 cm below the right costal margin. He had a normal motor and mental development, and his neurologic examination was normal. There was no muscular weakness. ( SKINmed . 2022;20:305-306).

Genetic diseases in Tunisia are a real public health problem given their chronicity and the lack of knowledge concerning their prevalence and etiology, and the high rates of consanguinity. Hence, we performed systematic reviews of the literature in order to provide a more recent spectrum of these disorders and to expose the challenges that still exist to tackle these kinds of diseases. A manual textual data mining was conducted using MeSH and PubMed databases. Collected data were classified according to the CIM-10 classification and the transmission mode. The spectrum of these diseases is estimated to be 589 entities. This suggests remarkable progress through the development of biomedical health research activities and building capacities. Sixty percent of the reported disorders are autosomal recessive, which could be explained by the high prevalence of endogamous mating. Congenital malformations (29.54%) are the major disease group, followed by metabolic diseases (22%). Sixty percent of the genetic diseases have a known molecular etiology. We also reported additional cases of comorbidity that seem to be a common phenomenon in our population. We also noticed that epidemiological data are scarce. Newborn and carrier screening was only limited to pilot projects for a few genetic diseases. Collected data are being integrated into a database under construction that will be a valuable decision-making tool. This study provides the current situation of genetic diseases in Tunisia and highlights their particularities. Early detection of the disease is important to initiate critical intervention and to reduce morbidity and mortality.

Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic features, and motor dysfunctions. AM has never been reported in Tunisia. We report here the clinical and genetic study of six patients from two Tunisian families with AM. The AM diagnosis was confirmed by an enzymatic activity assay. Genetic investigation was conducted by Sanger sequencing of the mutational hotspots for the first family and by ES analysis for the second one. In the first family, a frameshift duplication p.(Ser802GlnfsTer129) was identified in the MAN2B1 gene. For the second family, ES analysis led to the identification of a missense mutation p.(Arg229Trp) in the MAN2B1 gene in four affected family members. The p.(Ser802GlnfsTer129) mutation induces a premature termination codon which may trigger RNA degradation by the NMD system. The decrease in the levels of MAN2B1 synthesis could explain the severe phenotype observed in the index case. According to the literature, the p.(Arg229Trp) missense variant does not have an impact on MAN2B1 maturation and transportation, which correlates with a moderate clinical sub-type. To explain the intra-familial variability of cognitive impairment, exome analysis allowed the identification of two likely pathogenic variants in GHR and SLC19A3 genes potentially associated to cognitive decline. The present study raises awareness about underdiagnosis of AM in the region that deprives patients from accessing adequate care. Indeed, early diagnosis is critical in order to prevent disease progression and to propose enzyme replacement therapy., Competing Interests: The authors have declared that no competing interests exist.