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.

Surgical patient registries: scoping study of challenges and solutions.

Patient surgical registries are essential tools for public health specialists, creating research opportunities through linkage of registry data with healthcare outcomes. However, little is known regarding data error sources in the management of surgical registries. In June 2022, we undertook a scoping study of the empirical literature including publications selected from the PUBMED and EMBASE databases.

Retrospective clinicopathological study of malignant bone tumors in children and adolescents in Romania - single center experience.

Rationale: There is few data on epidemiology or clinico-pathology of malignant bone tumors in children and adolescents in Romania. These tumors are very rare compared to other malignancies, yet they account for a major source of mortality and morbidity among patients with cancer. Bone tumors often have a similar presentation and clinical approach, but they present individual characteristics that are important for treatment and prognosis.

Burnei-Gavriliu classification of congenital scoliosis.

Introduction: The existent classifications of congenital scoliosis cannot contain all the cases encountered in the medical practice taking into account the complexity of the spine deformity in this pathology.

Purpose: The paper represents a retrospective study that analyses a new classification of congenital scoliosis in comparison with the existing classification.

Materials And Method: This study analyses 56 cases over a period of 14 years (2000-2013), based on the spine dominant deviation: longitudinal or rotational imbalance.

Technological update of the video-endoscopic approach of the diagnosis and staging of tumors in children.

The pediatric patient is often difficult to diagnose, especially since the surgical pathology is tumoral. Establishing the histopathological diagnosis of a tumor, staging of a disease and certifying the existence of rare pediatric affections are three of the motives for which the specialists frequently appeal to an exploratory laparoscopy, accompanied by biopsy procedures. The paper presents the laparoscopic biopsy experience of the team from the Department of Pediatric Surgery, "Maria Skłodowska Curie" Emergency Clinical Hospital for Children, Bucharest, Romania.

Proximal congenital radial-ulnar synostosis and synchondrosis; pathogenic concept and a new therapeutic method.

Background Context: Proximal congenital radial-ulnar synostosis (PCRUS) is defined by the development before birth of a bony bridge between the radius and ulna, usually at the proximal level, which blocks forearm rotation. This anomaly is rarely reported in the medical literature, because of its low prevalence, and treatment usually yields unsatisfactory results. The most commonly used surgical interventions are: forearm repositioning osteotomies with derotation of the radius and ulna, segmental resections of the middle third of the radius with muscular interposition, resection of the synostosis with the interposition of fatty tissue, tendons or fascia lata and resection of the proximal radius along with the transfer of the distal extensor carpi ulnaris tendon on the lateral edge of the radius.

Burnei's "double X" internal fixation technique for supracondylar humerus fractures in children: indications, technique, advantages and alternative interventions : Study and Research Group in Pediatric Orthopaedics-2012.

Background: The Study and Research Group in Pediatric Orthopedics-2012 initated this retrospective study due to the fact that in Romania and in other countries, the numerous procedures do not ensure the physicians a definite point of view related to the therapeutic criteria in the treatment of supracondylar fractures. That is why the number of complications and their severity brought into notice these existent deficiencies. In order to correct some of these complications, cubitus varus or valgus, Prof.

Upper and lower limb length equalization: diagnosis, limb lengthening and curtailment, epiphysiodesis.

Introduction: This article contains notions and guidelines derived from the current therapeutic approach used in the Pediatric Orthopedics Clinic of "M.S. Curie" Hospital, Bucharest.

Acute osteomyelitis--special cases with particularities related to specific locations.

In the clinical practice of paediatric orthopaedic surgery, there are a few cases of acute osteomyelitis which are not characterized by general and local infectious syndrome, making the diagnosis difficult and leading to severe complications. The specific locations, seldom affected, are the spine, pubis, ilium, ischium, sacrum and coccyx. Comparing with other regions, spinal osteomyelitis is less frequent (1:80).

Discal hernia in children and teenagers: medical, surgical and recovery treatment.

Lumbar disc hernia represents a rare situation for the physician. The first intervention in disc hernia was performed during the '40. The rate of surgery needing lumbar hernia is about 1-2%.

Von Recklinghausen's disease--elements of clinical practice.

Neurofibromatosis is a condition described for the first time by Von Recklingahausen in 1882. This disease is one of the most common genetic disorders and is characterized by multiple tumors of the central and peripheral nervous system, brown macules on the skin, bone deformities, and by vascular and visceral disorders. Despite extensive basic science research, the diagnosis is still based largely on clinical criteria, which often present gradually during childhood.