New insight into the morphological characteristics of patella cubiti.

Accessory bones in the elbow region are rare anatomical variations with important clinical significance as they can be misdiagnosed as pathological lesions. Usually, they are asymptomatic and found incidentally during X-ray examination in the context of trauma. Although these bones have been previously described, their development is not fully understood. The present case provides complex macroscopic, X-ray and histological descriptions of a sesamoid bone in the posterior region of the elbow-patella cubiti and the related surrounding structures. Moreover, this report indicates the presence of a well-defined syndesmosis between patella cubiti and the proximal ulna.

Flow Diversion for the Management of Ruptured Intracranial Arterial Infudibular Dilatation: Proof of Principle and Therapeutic Protocol.

Thought to be benign anatomical variants, cerebral infundibular dilatations (ID) are most commonly encountered at the junction of the internal carotid artery (ICA) and the posterior communicating artery (PcomA). The true nature of this entity remains controversial, as some literature reports suggest they should be considered preaneurysmal lesions and a potential source of devastating subarachnoid hemorrhage. This report describes cases of presumably ruptured IDs and their therapeutic endovascular management. We retrospectively reviewed and analyzed patients with isolated subarachnoid hemorrhage (SAH) where the only potential cause was ruptured cerebral IDs, treated or not, between January 2012 and June 2021. Morphological and radiological features, treatment and procedural considerations, clinical and angiographic outcomes were also reviewed. Natural history of the ID is poorly understood, and its relation to SAH remains controversial. Ruptured cerebral IDs can be the suspected cause of bleeding if no other vascular lesion is present during multimodal examinations. Endovascular flow diversion stenting is safe and effective for the proper treatment of ruptured IDs. Pending further validations with longitudinal data are needed to legitimate the natural course of these mysterious lesions.

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

Mutations in TCAP gene cause autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G), congenital muscular dystrophy and autosomal dominant dilated and hypertrophic cardiomyopathy. We studied 18 affected individuals from 12 pedigrees, belonging to a Bulgarian Muslim minority from the South-West of Bulgaria, homozygous for the c.75G>A, p.Trp25X mutation in TCAP gene. The heterozygous carrier rate of p.Trp25X among 100 newborns in this region was found to be 2%. The clinical features in the Bulgarian TCAP group include disease onset in the first to the third decade of life, proximal muscle weakness in the lower limbs, followed or accompanied by difficulties in ankle dorsiflexion and involvement of the proximal muscles of the upper limbs 5-9 years after the disease onset. Asymmetry between left and right was present in more than 20% of the affected. Respiratory and cardiac functions were not affected. On the MRI the muscles of the posterior pelvic area, thigh and anterior leg were predominantly affected, while sartorius, gracilis and biceps femoris muscles remained relatively spared. In conclusion, LGMD2G appears to be a common form among Bulgarian Muslims. Homozygosity for c.75G>A, p.Trp25X is associated with a homogeneous clinical presentation, but the clinical course and severity of the disease show inter- and intra-familial variation.