Pediatric Thoracic and Lumbar Spinal Fractures

Aim: Vertebral body fractures in childhood are rarely observed and differ from those in adults due to incomplete ossification. There is no guideline for the management of pediatric thoracolumbar spinal fractures. The aim of this study is to examine the epidemiological data of our pediatric patients treated for thoracic and lumbar vertebral fractures and to contribute to the decision-making processes regarding the diagnosis and treatment of these patients. Methods: Patients under 16 years of age who were admitted to the emergency department of Alanya Education and Research Hospital with a history of spinal trauma and diagnosed with thoracic and lumbar vertebral fractures between 2016-2023 were included. Our study included patients whose demographic data, causes of trauma, diagnostic tests, and treatments were accessed using the hospital's clinical database. Results: Among 154 patients admitted to our hospital with a diagnosis of spinal trauma, 21 patients who met the inclusion criteria were included in the study. Thirteen patients had a single vertebral body fracture, five had fractures in two vertebral bodies, and three had pars fractures leading to traumatic spondylolisthesis. Four patients underwent surgery due to vertebral fractures. Conclusion: The pediatric spine's biomechanical structure and self-healing ability differ from adults. Pediatric spinal traumas are important pathologies that need to be studied due to their rarity, difficulty in diagnosis, lack of experience in treatment, and potential complications that may develop in the long term

Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency

One of the severe combined immunodeficiencies (SCIDs), which is caused by a genetic defect in the signal transduction pathways involved in T-cell activation, is the ZAP70 deficiency. Mutations in ZAP70 lead to both abnormal thymic development and defective T-cell receptor (TCR) signaling of peripheral T-cells. In contrast to the lymphopenia in most SCID patients, ZAP70-deficient patients have lymphocytosis, despite the selective absence of CD8+ T-cells. The clinical presentation is usually before 2 years of age with typical findings of SCID. Here, we present three new ZAP70-deficient patients who vary in their clinical presentation. One of the ZAP70-deficient patients presented as a classical SCID, the second patient presented as a healthy looking wheezy infant, whereas the third patient came to clinical attention for the eczematous skin lesions simulating atopic dermatitis with eosinophilia and elevated immunoglobulin E (IgE), similar to the Omenn syndrome. This study illustrates that awareness of the clinical heterogeneity of ZAP70 deficiency is of utmost importance for making a fast and accurate diagnosis, which will contribute to the improvement of the adequate treatment of this severe immunodeficiency

The relationship between SOD1 and Hsp70 expression in broiler ileum throughout post-hatching development

Heat shock proteins (Hsps) are molecular chaperones that play critical functions in the survival and development of cells. Hsps influence adaptive and innate immune responses and may promote cross-talk between the two systems. Superoxide dismutases (SODs) are metalloenzymes that play an essential role in the body's defense against oxidative stress by efficiently removing excess reactive oxygen species. This study is an experimental study that was conducted to determine the relationship between SOD1 and Hsp70 expression in the ileum during the post-hatching development of the broiler. In the study, samples were taken from ileum tissue of 0-, 21- and 42-day-old broilers were used as material. While the Hsp70 immunoreactivity observed in the epithelial cells was specific to a few cells on day 0, it was detected in more villus epithelial cells on days 21 and 42. The Hsp70 expression in the ileum increased from the age 0 to up to day 42, especially in villus epithelial cells. In sections stained by SOD1, the ileum's villus epithelial cells and smooth muscle cells showed an intracytoplasmic reaction. From day 21 to day 42, a regular increase in SOD1 expression was detected in the crypt and villus epithelial cells. As a remarkable finding, a more intense intracytoplasmic staining was detected in villus epithelial cells located at the apex of intestinal villi. In conclusion, it was observed that SOD1 and Hsp70 expression increased in the ileum tissue throughout post-hatching development in broilers with a positive correlation with age. Based on the histological findings, it can be concluded that SOD1 and Hsp70 play a critical protective role in the small intestine after hatching and contribute to the rapid development of the intestine

Reprint of “The clinical impact of deficiency in DNA non-homologousend-joining”

DNA non-homologous end-joining (NHEJ) is the major DNA double strand break (DSB) repair pathway inmammalian cells. Defects in NHEJ proteins confer marked radiosensitivity in cell lines and mice models,since radiation potently induces DSBs. The process of V(D)J recombination functions during the devel-opment of the immune response, and involves the introduction and rejoining of programmed DSBs togenerate an array of diverse T and B cells. NHEJ rejoins these programmed DSBs. Consequently, NHEJdeficiency confers (severe) combined immunodeficiency – (S)CID – due to a failure to carry out V(D)Jrecombination efficiently. NHEJ also functions in class switch recombination, another step enhancing Tand B cell diversity. Prompted by these findings, a search for radiosensitivity amongst (S)CID patientsrevealed a radiosensitive sub-class, defined as RS-SCID. Mutations in NHEJ genes, defining human syn-dromes deficient in DNA ligase IV (LIG4 Syndrome), XLF-Cernunnos, Artemis or DNA-PKcs, have beenidentified in such patients. Mutations in XRCC4 or Ku70,80 in patients have not been identified. RS-SCIDpatients frequently display additional characteristics including microcephaly, dysmorphic facial featuresand growth delay. Here, we overview the clinical spectrum of RS-SCID patients and discuss our currentunderstanding of the underlying biology

A novel mutation leading to a deletion in the SH3 domain of Bruton's tyrosine kinase

X-linked agammaglobulinemia (XLA) is a primary B cell immunodeficiency disorder, caused by a defect in the Bruton tyrosine kinase (BTK) gene. Here, we describe a novel four base pair mutation (838delGAGT) in intron 9 of the BTK gene leading to the skipping of exon 9 in a 2.5-year-old boy with this disorder

Hereditary C1q deficiency: a new family with C1qA deficiency

Hereditary deficiency of complement component C1q is a rare genetic disorder with susceptibility to recurrent infections with polysaccharide-containing encapsulated microorganisms and a high prevalence of autoimmune diseases, most often systemic lupus erythematosus (SLE). Here, we report a 29-month-old boy who presented with facial rash and history of early death of a sibling with infections, who was found to have a selective deficiency of C1q. The facial rash was composed of patchy erythematous plaques and centrally hypopigmented macules and desquamation. Two siblings had died of severe bacterial infections and his uncle had died of meningitis. Molecular study disclosed a homozygous point mutation in the C1qA chain gene. Five members of the family, including the parents and three healthy siblings, were heterozygous for this mutation

Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia

Cartilage-hair hypoplasia (CHH) is one of the well-known immuno-osseous dysplasias (IOD), which are a combination of skeletal dysplasia and immunodeficiency. It is characterized by disproportionate short stature, fine sparse hair, ligamentous laxity, hematological abnormalities with anemia, a predisposition to malignant tumors, and recurrent infections usually due to cellular and/or humoral immunodeficiency. However, there is a significant overlap of clinical findings among the other IODS such as Schimke's IOD. Here, we present a case of CHH with mild skeletal changes and immunological findings associated with recurrent otitis media, neutropenia, and lymphopenia. With this report, we once more emphasize the difficulty in assessing young individuals with CHH presenting with mild ectodermal findings and subtle radiographic changes

Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia

Cartilage-hair hypoplasia (CHH) is one of the well-known immuno-osseous dysplasias (IOD), which are a combination of skeletal dysplasia and immunodeficiency. It is characterized by disproportionate short stature, fine sparse hair, ligamentous laxity, hematological abnormalities with anemia, a predisposition to malignant tumors, and recurrent infections usually due to cellular and/or humoral immunodeficiency. However, there is a significant overlap of clinical findings among the other IODS such as Schimke's IOD. Here, we present a case of CHH with mild skeletal changes and immunological findings associated with recurrent otitis media, neutropenia, and lymphopenia. With this report, we once more emphasize the difficulty in assessing young individuals with CHH presenting with mild ectodermal findings and subtle radiographic changes