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Agenesis of the corpus callosum is a rare congenital condition, present at birth, characterized by the partial or complete absence of the corpus callosum. Although the exact causes are usually unknown, the condition can be inherited either as an autosomal recessive trait or as an X-linked dominant trait [1]. Alternatively, it may result from an infection or injury during the 20th to 22nd weeks of pregnancy, which can lead to disruptions in the development of the fetal brain, or it may be caused by toxic factors, such as fetal alcohol syndrome [2]. We present the case of a 2-month-old male patient with acute surgical pathology that began at birth and rapidly progressed to severe infection, requiring sustained antibiotic treatment and assisted respiration. The presence of muscular hypotonia and tonic-clonic seizures at home, following the first hospitalization, necessitated readmission to another university clinic, where he was also diagnosed with agenesis of the corpus callosum. The management of this case required special attention to clinical manifestations, rapid identification of complications, appropriate therapeutic management, and essential collaboration among members of the medical team. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate the prevalence of the Iodothyronine Deiodinase 2 gene Thr92Ala polymorphism in children from West of Romania with congenital hypothyroidism (CH) and association with TSH levels in response to levothyroxine monotherapy.

Diabetic ketoacidosis (DKA), a common onset modality of type 1 diabetes mellitus (T1DM), can lead, in rare instances, to the development of cerebral edema, which is the leading cause of mortality in T1DM. Aside from the identification of several demographic and clinical risk factors for cerebral edema, attention has also been drawn to the possible link between systemic inflammation and neuroinflammation. This single-center retrospective study of 98 children with severe DKA aimed to investigate the possible relationship between neutrophil-to-lymphocyte ratio NLR) levels and the presence of cerebral edema. Patients were classified into three groups: alert (n = 28), subclinical cerebral edema (n = 59), and overt cerebral edema (n = 11). Lower blood pH and elevated NLR and blood urea were correlated with the presence of cerebral edema (p < 0.001). After a multivariable risk adjustment for possible confounding factors, such as age, pH, corrected sodium, and BUN, the NLR remained positively associated with cerebral edema (p = 0.045). As such, NLR may be an additional instrument to help practitioners target patients with a higher risk of severe cerebral edema. These patients would benefit from more rigorous neurologic surveillance, enabling the prompt identification of early signs of cerebral edema. [ABSTRACT FROM AUTHOR]

Gabriela, 8 years old, was admitted in the 1st Pediatric Clinic, Timisoara for the evaluation of cholestasis syndrome. She was known with hypotonic cerebral palsy, epilepsy with polymorphic seizures partial controlled by anticonvulsants and 5 atraumatic leg fractures occurred in the last 3 years. At admission, she had pale skin, absent subcutaneous tissue and muscle atrophy with muscle atrophy. She had splint cast in the left lower limb and pseudoarthrosis in the 1/3 distal of the right leg. The biological investigations revealed normal liver enzymes except alkaline phosphatase, an abnormal coagulation and bone markers and the presence of starch and fiber in the stool, while the other tests were normal. The radiography of extremities showed osteolysis injuries and old left clavicle, upper third diaphysis of left humerus and femur and lower third diaphysis of right tibia fractures, with vicious callus secondary to Osteogenesis Imperfecta. We considered that all these fractures were manifestations of osteoporosis secondary to malabsorption syndrome, malnutrition, vitamin D and K deficiencies, chronic anticonvulsant therapy and Osteogenesis Imperfecta. The evolution was favorable under treated with calcium gluconate, vitamin D and K with the reduction of alkaline phosphatase and normalization of coagulation. The initiation of bisphosphonate therapy was taken into account. Case particularity: The association of osteoporosis and Osteogenesis Imperfecta responsible for the production of fractures in a patient with cerebral palsy and epilepsy. [ABSTRACT FROM AUTHOR]

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract and retinal detachment. It can also cause hearing loss that is both conductive and sensorineural. Under-development of the middle part of face, ogival palate, spondylo-epiphyseal dysplasia and/or precocious arthritis can also occur. The authors present the case of a 7 months old infant with failure to thrive associated to a particular phenotype; facial dysmorphism and congenital cataract, who was referred for admission presenting an upper respiratory tract infection. Corroborating the clinical examination with the paraclinical evaluation and genetic assessment, including the karyotype, the authors established in this case the diagnosis of Stickler syndrome. [ABSTRACT FROM AUTHOR]

A reliability analysis attempt is hereby presented for point mutations in Escherichia coli DNA replication without considering the postreplicative correction by the DNA mismatch repair system. Rates for correct and false enzymatic and mechanochemical processes are considered for calculation of probabilities for false primary inclusion of deoxynucleotides in the growing DNA chain and for defective verification of the new formed base pair in this chain by the DNA polymerase complex. Formulae for obtaining correct new synthesized DNA strand are given. The probability of no false insertion in the entire helix of length N in a correct new DNA strand is calculated to 0.63 with the 10-5 and 10-2 figures for the probabilities of defective base inclusion and escape rate and 4.6·106 bp length of the K12 strain E. coli chromosome. Perspectives of reliability analysis for mechanism concerning specificity in biologic processes are discussed. [ABSTRACT FROM AUTHOR]

Introduction: Multiple familiary exostoses is a rare hereditary bone disease that can affect both genders characterized by the growth of bone tumors (exostosis or osteochondomas) mainly at the extremities of the long bones. The onset may be from the infant period and up to the young adult. Aim: Presenting the case of a patient how was addmited with pain on her left thigh, discussing the diagnostic and therapeutic palette. Case Report: We present the case of an 8-year and 5-month-old female patient, from rural area who was admitted to the I st Pediatric Clinic of the Emergency Clinical Hospital for Children "Louis Turcanu", Timisoara for left thigh pain, accentuated by mobilization. The pacient had a thigh injury by falling in the parc. The clinical examination reveals a minimal echinosis (post-traumatic) in the mentioned area and a tumor at the level of the upper right arm. The patient has a positiv family history (the father) for multiple exostosis disease. This condition is suspected and investigated in our patient. Imaging investigations confirm this suspicion. Conclusion: Multiple familiary exostoses should be suspected in all patients who have parents with this condition. Disease management is complex: pediatrician, physical therapist, geneticist, surgeon. There is a need for a national registry of rare diseases to quantify them at national level. [ABSTRACT FROM AUTHOR]

Introduction: Celiac disease is a complex disorder that by affecting the absorption process affects other systems. Endocrine disorders associated with celiac disease are a real problem, unfortunately insufficient studied in children. Material and Method: For a 2-year period, 2015-2017, we followed patients with celiac disease that who associate endocrine disorders. The study protocol included rigorous anamnesis, clinical assessment, quantification of auxological data (real height compared to height for age, real weight compared to weight of height, body mass index according with gender and age, abdominal circumference). Biological investigations aimed to confirm Celiac Disease (according to the ESPGHAN guidelines) and endocrine investigations related to the clinical examination (TSH, FT3, FT4, antiTPO antibodys, antiTg antibodys, antiadrenal antibodies, glycemia, Haemoglobin A1c, Ca, Ca ++ Mg, Alkaline phosphatase, Vitamin D3). Imaging investigations were targeted: echography, DEXA osteodensitometry. Results: Of 7850 patients admitted for 2 years, 15 patients presented celiac disease and endocrine manifestations. Most patients were female, and they came from the urban environment. The main symptom was short stature, diarrhea, abdominal pain. The associated endocrine pathology was type I Diabetes mellitus, autoimmune thyroiditis, growth hormone deficiency, osteopenia and osteoporosis. Conclusions: Celiac disease is underdiagnosed. Endocrine abnormalities should be sought in all patients with celiac disease. Screening for Celiac Disease should be performed in all patients with small stature. The patient and parents should be informed of possible metabolic complications of the disease. [ABSTRACT FROM AUTHOR]