Misdiagnosed for 14 Years: Adenosine Deaminase 2 (ADA2) Deficiency in a Teen Mimicking Polyarteritis Nodosa.

The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder caused by loss of function mutations in the ADA2 gene (previously the CECR1 gene) on chromosome 22q11. The clinical spectrum of the disease is remarkably broad, and its presentations mimic features of polyarteritis nodosa, such as livedoid rash, hematological abnormalities (e.g.

Radiographic acceptable zone of endobutton placement in ACL reconstruction: A prospective study.

Purpose: During the transportal technique of anterior cruciate ligament (ACL) reconstruction, tunnel outlet location can be varied depending on certain anatomical and technical characteristics. Therefore, we aimed to find out the acceptable zone of endobutton location by introducing several radiographic values.

Methods: Postoperative lateral radiographs of 72 patients were assessed to measure the distances from the centre of the button to the posterior femoral cortex (D1) and to the most distal point of the lateral condyle (D2).

Iron accumulation/overload and Alzheimer's disease risk factors in the precuneus region: A comprehensive narrative review.

Alzheimer's disease (AD) is a neurodegenerative disease that is characterized by amyloid plaques, neurofibrillary tangles, and neuronal loss. Early cerebral and body iron dysregulation and accumulation interact with AD pathology, particularly in the precuneus, a crucial functional hub in cognitive functions. Quantitative susceptibility mapping (QSM), a novel post-processing approach, provides insights into tissue iron levels and cerebral oxygen metabolism and reveals abnormal iron accumulation early in AD.

The effect of astaxanthin after varicocele surgery on antioxidant status and semen quality in infertile men: A triple-blind randomized clinical trial.

Varicocele (VC) is widely recognized as a prevalent etiological factor contributing to male infertility. It has been established that the generation of reactive oxygen species (ROS) plays a significant role in the progression and development of VC. Antioxidants may regulate ROS levels in these patients.

Calcium accumulation or iron deposition: Delving into the temporal sequence of amyotrophic lateral sclerosis pathophysiology in the primary motor cortex.

Amyotrophic lateral sclerosis (ALS) causes progressive motor neuron degeneration, but an in vivo understanding of its early pathology remains limited. A recent study used topographic layer imaging to investigate iron and calcium accumulation in the primary motor cortex (M1) of patients with ALS compared with controls. Despite the preserved cortical thickness, ALS patients showed increased iron in layer 6 and calcium accumulation in layer 5a and the superficial layer.

Concomitant manifestations of systemic lupus erythematosus flare-up and nodal marginal zone B-cell lymphoma in a 41-year-old male patient: A challenging case report.

Key Clinical Message: Malignancy may be a possible cause of systemic lupus erythematosus (SLE) flare-ups, and it is necessary to consider it in the context of treatment resistance. In this case, we present a challenging instance of concomitant nodal marginal zone B-cell lymphoma (NMZL) and SLE flare-up in a 41-year-old male patient.

Abstract: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that can cause various symptoms and affect multiple organs in the body.

Regional fat distribution and hepatic fibrosis and steatosis severity in patients with nonalcoholic fatty liver disease and type 2 diabetes.

Background: Epidemiologic findings suggest that measures of body fat distribution predict health outcomes independent of the overall body fat assessed by body mass index (BMI). This study aimed to evaluate the associations of overall and regional body fat with the severity of hepatic steatosis and fibrosis in type 2 diabetic patients with non-alcoholic fatty liver disease.

Methods: Bioelectric impedance analysis and two newly developed anthropometric indices, namely, A Body Shape Index (ABSI) and Body Roundness Index (BRI), were used to estimate the body fat.

A 65-year-old woman with ALS and bilateral precentral motor band sign.

Advanced MRI techniques, including SWI, MinIP, and QSM, are instrumental in detecting the "motor band sign" in ALS, aiding in the early diagnosis and assessment of upper motor neuron involvement, which is critical for therapeutic interventions.

Concordance between ARISCAT risk score and cardiopulmonary exercise test values in risk prediction of postoperative pulmonary complications of major abdominal surgeries in a tertiary cancer hospital: A cross-sectional study.

Background And Aims: Pulmonary complications are common after surgery. They include vascular thrombosis, pneumonia, respiratory failure (RF), and pain-related atelectasis. There are a number of models to predict the risk of postoperative respiratory events other than thrombosis.

Guillain-Barre syndrome after antithymocyte globulin administration in a kidney transplant recipient: A case report and literature review.

This report describes a rare case of developing Guillain-Barre syndrome (GBS) following receiving rabbit antithymocyte globulin (ATG) after kidney transplantation to prevent acute allograft rejection in a 34-year-old man. The patient presented severe pain in the right temporomandibular joint, fever, chills, myalgia, polyarthralgia, and bone pain. Twelve hours later, he developed quadriplegia, paresthesia, and a limited range of active motions in all extremities.

A case of ankylosing spondylitis presenting with fever of unknown origin diagnosed as aortitis: A case report.

Key Clinical Message: Clinicians should be aware of rare manifestations of AS, while considering a low threshold for screening vascular involvement in an axial SpA/nrxSpA/AS presenting with unexplained fevers and significant constitutional symptoms and elevated markers.

Abstract: Ankylosing spondylitis (AS) is a chronic inflammatory disease from the spondyloarthritis complex, which usually affects young men and primarily involves sacroiliac joints and the spine. It can also present with non-joint involvement, such as cardiovascular manifestations.

Relapsing anemia associated with parvovirus B19 infection in a kidney transplant recipient: A case report and review of the literature.

Key Clinical Message: PB19 infection should be considered an uncommon cause of posttransplant anemia in renal transplant recipients, particularly those whose anemia is not associated with common etiologies. IVIG treatment and reduced immunosuppression could be beneficial.

Abstract: Parvovirus B19-associated relapsing anemia is rare in kidney transplant recipients.

[ Tc] Tc-MDP bone SPECT/CT diagnosing unstable slipped capital femoral epiphysis with secondary AVN in a patient with misleading knee pain.

Bone scan is highly sensitive whole-body imaging with relative low radiation in patients with non-localized skeletal symptoms. Patient is 12-year-old boy with Down syndrome, suffering recent claudication and exacerbated left knee pain unable to walk even with crutches. Three-dimensional Single photon emission computed tomography/Computed tomography (SPECT/CT) detected left slipped capital femoral epiphysis (SCFE) and secondary Avascular necrosis (AVN).

HELLP syndrome complicated by ischemic colitis: A case report.

Key Clinical Message: HELLP syndrome is a complicated disorder associated with many unknown complications, which ischemic colitis might be one of. Timely diagnosis and prompt management with multidisciplinary approach is the key for a favorable outcome.

Abstract: HELLP syndrome is a triad of hemolysis (H), elevated liver enzymes (EL), and low platelet count (LP) which is considered a rare but serious pregnancy complication.

Fanconi anemia phenotypic and transplant outcomes' associations in Iranian patients.

Objectives: Fanconi anemia (FA) is a rare, heterogeneous, inherited disorder. Allogeneic hematopoietic stem cell transplantation (HSCT) represents the only therapeutic option to restore normal hematopoiesis. This study reports the outcomes of FA-HSCT patients and identifies factors, including clinical phenotype.

COVID-19 vaccine-induced vasculitis in a patient with sarcoidosis: A case report.

A 55-year-old lady with a nine-year history of controlled sarcoidosis developed vasculitis after Sinopharm COVID-19 vaccine (BBIBP- CorV). She was ultimately diagnosed with mononeuritis multiplex based on EMG-NCV findings and administered methylprednisolone and cyclophosphamide pulse therapy for 5 days, and then continue with prednisolone and a monthly pulse of cyclophosphamide.

Cerebrotendinous xanthomatosis and infertility: A case report.

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder that causes neurological, ophthalmic, vascular, and musculoskeletal disorders due to the deposition of cholesterol in the tissues. Hence, we report clinical and imaging of a 31-year-old mentally retarded man with cerebellar ataxia, bilateral swelling of the posterior aspect of Achill, and infertility.

Recovery of diabetes insipidus after Chiari malformation decompression: A rare manifestation of Chiari malformation.

This paper aims to introduce a patient with Chiari type 1 malformation presented with upper extremity pain and diabetes insipidus. After laboratory examinations, we confirmed our case's central diabetes insipidus diagnosis. The patient has undergone posterior fossa decompression, tonsilopexy, and duraplasty.

Dominant omodysplasia-A sporadic case-A new case report and review of the literature.

Omodysplasia is an extremely rare skeletal dysplasia. Since introducing this phenotype as a new syndrome, ten cases of the autosomal dominant type of this disease have been reported. Here, we present a new patient and review published articles in this field to provide a clinical diagnostic criterion.

Thrombotic thrombocytopenia After Sinopharm BBIBP-CorV COVID-19 vaccination.

Background: Severe side effects after vaccination with coronavirus disease 2019 (COVID-19) vaccines are rare but can be fatal. To date, vaccine-induced immune thrombotic thrombocytopenia (VITT) cases have been reported after injection of mRNA and adenoviral vectors COVID-19 vaccines. Here, we report the second suspected case of VITT after vaccination with the Sinopharm vaccine, an inactive vaccine.

Subcutaneous panniculitis-like T-cell lymphoma in a young girl presenting with periorbital edema and fever: A case report.

Subcutaneous panniculitis-like T-cell lymphoma is a rare and highly malignant extra-nodal lymphoma. It has a wide range of clinical presentations (such as periorbital swelling as in our case) and should be considered in the differential diagnosis of systemic lupus erythematosus, especially in children.

Adenoid cystic carcinoma of buccal mucosa: A report of two rare cases and review of literature.

In the oral cavity, adenoid cystic carcinomas of the buccal mucosa are extremely rare. Minor salivary grand adenoid cystic carcinoma should receive aggressive treatment to achieve negative surgical margins to inhibit recurrence.

Displacement of the third molar bud to the sublingual space during open reduction and internal fixation of mandibular angle fracture: A case report.

This case could remind surgeons to consider the possibility of displacement of the impacted third molar in the fractured line to adjacent spaces, during open reduction and internal fixation of mandibular angle fracture.

Metastasis of a prostate adenocarcinoma to mandible: A case report and review of literature.

Dentists and physicians should include oral metastases originating from prostate adenocarcinoma as a rare differential diagnosis of jaw lesions that can produce periosteal reactions in the radiographic features such as osteosarcoma.