RESUMO
Several neurological disorders, neurodevelopmental disorders, and neurodegenerative disorders have a genetic element with various clinical presentations ranging from mild to severe presentation. Neurological disorders are rare multifactorial disorders characterized by dysfunction and degeneration of synapses, neurons, and glial cells which are essential for movement, coordination, muscle strength, sensation, and cognition. The cerebellum might be involved at any time, either during development and maturation or later in life. Herein, we describe a spectrum of NDDs and NDs in seven patients from six Egyptian families. The core clinical and radiological features of our patients included dysmorphic features, neurodevelopmental delay or regression, gait abnormalities, skeletal deformities, visual impairment, seizures, and cerebellar atrophy. Previously unreported clinical phenotypic findings were recorded. Whole-exome sequencing (WES) was performed followed by an in silico analysis of the detected genetic variants' effect on the protein structure. Three novel variants were identified in three genes MFSD8, AGTPBP1, and APTX, and other previously reported three variants have been detected in "TPP1, AGTPBP1, and PCDHGC4" genes. In this cohort, we described the detailed unique phenotypic characteristics given the identified genetic profile in patients with neurological "neurodevelopmental disorders and neurodegenerative disorders" disorders associated with cerebellar atrophy, hence expanding the mutational spectrum of such disorders.
RESUMO
The aim of this study is to compare lengthening over an intramedullary nail to the conventional Ilizarov method with regard to percentage length increase, external fixation index, consolidation index and incidence of complications. This is a prospective randomized controlled study. Thirty-one limbs in 28 patients were included in the study; 15 were lengthened over an intramedullary nail, and 16 limbs were lengthened conventionally. The mean duration of external fixation in the lengthening over nail group was 52.2 days compared to 180.4 days in the conventional group. There was higher incidence of complications in the conventional method group. In comparison with conventional Ilizarov lengthening, lengthening over an intramedullary nail offers a shorter period of external fixation and fewer complications overall, but there is a high incidence of deep intramedullary infection which is serious.
RESUMO
Massive segmental bone loss due to chronic osteomyelitis represents a considerable challenge to orthopedic surgeons and is a limb threatening condition. The only option available in such a clinical situation is segment transport using the Ilizarov technique of distraction osteogenesis; yet the most common problem in cases of bone transport with the Ilizarov technique in massive bone loss, is the long duration of the fixator. In addition to autologous bone grafting, several mechanical, biologic, and external physical treatment modalities may be employed to promote bone formation and maturation during segment transport in osteomyelitis patients. Mechanical approaches include compressive loading of the distraction regenerate, increased frequency of small increments of distraction, and compression-distraction. Intramedullary nailing and hemicorticotomy can reduce the time in external fixation; however, these techniques are associated with technical difficulties and complications. Exogenous application of low-intensity pulsed ultrasound or pulsed electromagnetic fields may shorten the duration of external fixation. Other promising modalities include diphosphonates, physician-directed use (off-label use) of bone morphogenetic proteins, and local injection of bone marrow aspirate and platelet gel at the osteotomy site. Well-designed clinical studies are needed to establish safe and effective guidelines for various modalities to enhance new bone formation during distraction osteogenesis after segment transfer.