Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the Gene and Literature Review.

: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.

Paradoxical Psoriasis Induced by Ustekinumab: A Comprehensive Review and Case Report.

Ustekinumab (UST), a biologic agent targeting interleukin-12 and interleukin-23, is widely used in the management of psoriasis and Crohn's disease. Despite its efficacy, there have been instances of paradoxical psoriasis induction or exacerbation in some patients during UST therapy. This paper offers a comprehensive review of reported cases of UST-induced paradoxical psoriasis, including a case from our clinic.

The role of glomerular morphometric features in pediatric podocytopathies - a single center study.

Podocytopathies represent a well-studied subgroup of glomerulopathies, being characterized by proteinuria due to damage or dysfunction of podocytes. Glomerular size in podocytopathies has been studied in different population, but only a few studies take in consideration the pediatric population. There are different methods to assess the glomerular size, but most of the studies report the maximal profile area as being the most accurate one.

Proposal for future diagnosis and management of vascular tumors by using automatic software for image processing and statistic prediction.

Rationale: Infantile Hemangiomas (IH) are the most frequent tumors of vascular origin, and the differential diagnosis from vascular malformations is difficult to establish. Specific types of IH due to the location, dimensions and fast evolution, can determine important functional and esthetic sequels. To avoid these unfortunate consequences it is necessary to establish the exact appropriate moment to begin the treatment and decide which the most adequate therapeutic procedure is.

Proteus Syndrome: a difficult diagnosis and management plan.

Rationale: Proteus Syndrome (PS) is an extremely rare congenital pathology that causes overgrowth of multiple tissues, in particular bone and fat, following a mosaic pattern. The estimated incidence is of less than 1 per 1,000.000 live births and represents a significant challenge to the pediatric and orthopedic surgeons in order to establish a diagnosis and to elaborate a management plan.

Diastematomyelia in congenital scoliosis: a report of two cases.

Introduction: Even if diastematomyelia is a rare condition, it always has to be identified in case of diagnosing and treating a case of congenital scoliosis. The consequence of missing the diagnosis of such a malformation may be devastating to the involved patient. This paper wants once again to make aware the physicians of the eventual presence of a spinal dysraphic malformation when dealing with a congenital spinal malformation.

An unusual case of congenital scoliosis associated with rib agenesis in the upper part of the concavity treated by VEPTR vertebra to vertebra.

Background Context: Rib agenesis in congenital scoliosis is rarely encountered, and its disposal in the application area of the proximal vertical expandable prosthetic titanium rib (VEPTR) module is a challenge to the orthopedic surgeon.

Purpose: To present a case in which known treatment methods in early-onset scoliosis were not possible to apply.

Study Design: Case report.

Surgical treatment in Osteogenesis Imperfecta - 10 years experience.

Introduction: Osteogenesis imperfecta (OI) is a very rare disease compared to other afflictions, running the risk of social isolation for children and their parents, due to the problems specific to the disease. All the social, psychological and physical disadvantages must be removed or at least mitigated, all within the society's limited resources. In Romania, this situation has led in the last couple of years to the selection of a number of extremely severe cases, which could not be solved by orthopedic and classic surgical treatment methods.