The Relationship Between Scoliosis, Spinal Bone Density, and Truncal Muscle Strength in Familial Dysautonomia Patients.

This combined retrospective and prospective study aimed to investigate the relationship between scoliosis, spinal bone mineral density (BMD), and truncal muscle strength in patients with familial dysautonomia (FD). A total of 79 FD patients (40 male, 39 female) aged 5-44 years were included. The severity of scoliosis, lumbar spine BMD (Z-score), and truncal muscle strength were assessed. Correlations were analyzed using Pearson's correlation coefficient. Inverse correlations were observed between scoliosis severity and BMD (r = - 0.328, p = 0.001), as indicated by increasingly negative Z-score values with worsening osteoporosis. There were also inverse correlations between scoliosis and truncal muscle strength (r = - 0.595, p < 0.001). The correlation between scoliosis and age was notable up to 22 years (r = 0.421, p = 0.01), but not in the older age group (22-44 years). Our study identified inverse correlations between osteoporosis and scoliosis, as well as between scoliosis and truncal muscle strength, in FD patients. These findings suggest that there may be a relationship between bone density, muscle strength, and the severity of spinal curvature in this population. While our results highlight the potential importance of early diagnosis and management of osteoporosis, and possibly the benefits of physical therapy to strengthen truncal muscles, further research is needed to determine the direct impact of these interventions on preventing the progression of scoliosis and its associated complications in FD patients. A long-term longitudinal study could provide more insights into these relationships and inform treatment strategies for FD patients.

The efficacy of 16S ribosomal DNA sequencing in the diagnosis of bacteria from blood, bone and synovial fluid samples of children with musculoskeletal infections.

BACKGROUND: Musculoskeletal infections are among the most common bacterial infections in children leading to hospitalization, invasive procedures and prolonged antibiotic administration. Blood, synovial and sometimes tissue cultures are essential for the diagnosis and treatment of musculoskeletal infections; 16S ribosomal DNA (rDNA) sequencing is a novel diagnostic tool for the detection of bacteria.While the yield of 16S rDNA sequencing in synovial fluid was previously assessed, data regarding the efficacy of this method from blood samples or partially treated children with suspected musculoskeletal infections is lacking.In this study we assessed the yield of 16S rDNA sequencing in blood, bone and synovial samples of children with musculoskeletal infections. METHODS: Blood, synovial and bone samples were collected from children with suspected musculoskeletal infections and analyzed for the presence of 16S rDNA, the results were then compared with the benchmark microbial cultures. RESULTS: During the study period, 41 children (18 boys and 23 girls) with suspected acute musculoskeletal infection were enrolled. A positive blood culture was found in 6/31 cases (19.4%) with methicillin-susceptible Staphylococcus aureus being the most commonly isolated bacterium. No significant 16S rDNA detection in blood samples was recorded.Synovial fluid culture was positive in 6/28 samples (21%), Kingella kingae being the most common pathogen. When using the 16S rDNA sequencing method, the rate of positive results in synovial fluid was higher with bacterial detection in 12/23 (52%) samples. The 16S rDNA sequencing method was also able to identify pathogens in samples taken from partially treated children where cultures were negative with 16S rDNA detection in 5/5 samples. CONCLUSION: Although 16S rDNA sequencing may increase the yield of bacterial detection in synovial samples of patients with musculoskeletal infections, there is no benefit from applying this method on blood samples. The 16S rDNA sequencing method may be particularly beneficial when antibiotic treatment was started prior to synovial fluid sampling. LEVEL OF EVIDENCE: Level-II diagnostic study.

DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation.

Lissencephaly is a phenotypically and genetically heterogeneous group of cortical brain malformations due to abnormal neuronal migration. The identification of many causative genes has increased the understanding of normal brain development. A consanguineous family was ascertained with three siblings affected by a severe prenatal neurodevelopmental disorder characterised by fronto-parietal pachygyria, agenesis of the corpus callosum and progressive severe microcephaly. Autozygosity mapping and exome sequencing identified a homozygous novel single base pair deletion, c.1197delT in DMRTA2, predicted to result in a frameshift variant p.(Pro400Leufs*33). DMRTA2 encodes doublesex and mab-3-related transcription factor a2, a transcription factor key to the development of the dorsal telencephalon. Data from murine and zebrafish knockout models are consistent with the variant of DMTRA2 (DMRT5) as responsible for the cortical brain phenotype. Our study suggests that loss of function of DMRTA2 leads to a novel disorder of cortical development.

Clinical outcome of umbilical artery catheter-related thrombosis - a cohort study.

OBJECTIVE: To reveal the incidence of umbilical artery catheter-related thrombosis (UACRT), the associated risk factors and the natural history of clot formation and regression. STUDY DESIGN: A prospective cohort study. An umbilical artery catheter was inserted in 61 infants, who were evaluated and followed by serial duplex ultrasound studies for the development of UACRT, renal artery resistance index (RI) and clot resolution. Maternal and infant clinical variables were correlated with the characteristics of thrombi. RESULT: Nineteen infants developed UACRT, all resolved spontaneously without sequella; most had maximal length at the first evaluation. No correlation was found between the thrombus length and time to resolution. The RI did not differ between the infants with and without UACRT. After adjusting for possible confounding, catheter days was the only covariate associated with UACRT. CONCLUSION: Asymptomatic UACRT in our cohort was a self-resolving disease; it was associated with catheter days and did not necessitate medical treatment.

Air encircling the intussusceptum on air enema for intussusception reduction: an indication for surgery?

OBJECTIVES: The prompt identification of children in whom enema reduction of intussusception might fail and surgery is necessary is crucial in order to avoid futile repeat attempts and untoward complications. The purpose of this retrospective review was to determine whether air encircling the intussusceptum in the small bowel during air enema for intussusception reduction could serve as an indication for operation rather than repeat attempts at radiological reduction. METHODS: Imaging studies of 83 children aged 4 to 40 months with idiopathic intussusception who had air enema for intussusception reduction were reviewed for the presence of air encircling the intussusceptum in the distal small bowel. Findings were correlated with clinical course and surgical findings. RESULTS: In 12 of 83 patients, air was seen encircling the intussusceptum in the small bowel, and in 11 of these (88%) air enema failed to reduce the intussusception. In 8 of the 11, delayed repeated attempts using air enema failed to reduce intussusception. Clinical signs and their duration did not differ between those children without and those with air encircling the intussusceptum. CONCLUSION: In the presence of air encircling the intussusceptum in the distal small bowel on air enema, delayed repeated attempts for intussusception reduction are unlikely to succeed, and surgery is indicated.

Coarctation of the aorta associated with aneurysm of the left subclavian artery.

Coarctation of the thoracic aorta is not often diagnosed after childhood. The combination of subclavian artery aneurysm in association with coarctation of the aorta is even less frequent. A review of the literature elicited only seven previously reported cases of such an association. Presented herein is a case of a young adult with coarctation of the aorta and secondary left subclavian artery aneurysm, diagnosed incidentally. We discuss the incidence of these rare conditions and possible causes for their co-existence.

Sonography of brain tumors in infants and young children.

The sonographic features of five brain tumors are presented to emphasize the variability of imaging findings and the role that sonography may play in the initial diagnosis, determination of tumor vascularity, and biopsy guidance.

Fractures of the lateral process of the talus in children.

Fractures of the lateral process of the talus are an uncommon injury, which are often misdiagnosed as severe ankle sprain. This error may result in inappropriate treatment of an intraarticular fracture, with subsequent posttraumatic arthrosis. To date, only one fracture of a lateral talar process has been reported in a child, in whom delayed diagnosis and initial mismanagement led to a suboptimal result. The sport of 'snowboarding', which is gaining in popularity, has been significantly associated with fractures of the lateral talar process, leading some authors to dub this fracture 'Snowboarder's Fracture'. This and the ever-increasing incidence of major trauma lead us to believe that this fracture will be encountered more frequently, even in the pediatric population, as the two factors mentioned do not pass over this group. We report lateral talar process fractures in two children: one in a 9-year-old girl and one in an 11-year-old boy, the latter associated with talar neck and body fractures. Timely diagnosis enabled prompt open reduction and internal fixation, preventing subtalar arthrosis. We discuss the pertinent anatomy and mechanism, and present the clinical picture, imaging studies and treatment. Two important points are exemplified by these cases. First, this fracture, although rare, does occur in children, and should be sought in appropriate settings. Second, despite the severe talar injury in the 11 year old, early diagnosis and intervention conserved foot function.

Takayasu's arteritis identified by computerized tomography: revealing the submerged portion of the iceberg?

BACKGROUND: Takayasu's arteritis is a rare, probably underdiagnosed disorder in Israel. OBJECTIVE: To evaluate the contribution of computerized tomography to the diagnosis of Takayasu's arteritis. METHODS: A retrospective analysis of the diagnostic process was recently conducted in three consecutive patients diagnosed over the last 3 years. RESULTS: Three females of Arab origin with Takayasu's arteritis were recently identified by CT. In two of the three patients the imaging procedure was performed for different working hypotheses, and the radiological findings (wall thickening, perivascular edema, and segmental intraluminal obliteration of the aorta and its major branches) were unexpected. In these two patients, repeated physical examination following the imaging procedure disclosed initially missed findings that could have led to an earlier consideration of Takayasu's arteritis (bruits above the epigastrium, subclavian and carotid arteries, and absent brachial pulses). Retrospective analysis of the patients' symptoms following CT revealed the true nature of the patients misinterpreted complaints (e.g., typical abdominal angina replaced a faulty obtained history compatible with renal colic or dyspepsia). In the third patient CT was performed for the evaluation of an epigastric bruit associated with constitutional complaints. The diagnosis of aortitis, based upon the presence of diffuse aortic wall thickening and edema of the surrounding fat, without intraluminal narrowing, could have been missed by angiography, the traditional "gold standard" diagnostic procedure. All three patients complained of ill-defined epigastric abdominal pain and had epigastric tenderness during examination. CONCLUSIONS: CT has the potential for detecting Takayasu's disease and may be superior to angiography, particularly at the early non-obliterative stage. Since the diagnosis of Takayasu's disease is rarely considered, the expanding use of CT and MRI technologies may reveal missed cases that are evaluated for other plausible diagnoses. The true incidence of Takayasu's arteritis in Israel may be much higher than reported, particularly in the Arab population. Our findings suggest that epigastric tenderness, originating from active inflammatory reaction in the abdominal aortic wall, should be considered as a diagnostic criterion of Takayasu's aortitis.

Unusual gallbladder findings in two brothers with metachromatic leukodystrophy.

Characteristic biliary tree abnormalities in metachromatic leukodystrophy (MLD) include gallbladder polyposis and haemobilia. We report two brothers with MLD, who presented with uncommon biliary complications. One presented with gastric outlet obstruction secondary to gallbladder enlargement, which was treated by percutaneous aspiration. He later developed gallbladder carcinoma with liver metastases. His brother demonstrated US findings consistent with gallstones.