Intrahepatic persistent fetal right umbilical vein: a retrospective study

Introduction: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed. The inclusion criteria were women with gestational age greater than 13 weeks of gestation. Exclusion criteria were fetuses with situs abnormalities, due to the hepatic venous ambiguity, and extrahepatic PRUV. The primary outcome was the incidence of intrahepatic PRUV in our cohort. The secondary outcomes were associated malformations. Results: 219/57,079 cases (0.38%) of intrahepatic PRUV were recorded. The mean gestational age at diagnosis was 21.8 ± 2.9 weeks of gestations. PRUV was isolated in the 76.7%, while in 23.3% was associated with other major or minor abnormalities. The most common associated abnormalities were cardiovascular abnormalities (8.7%), followed by genitourinary abnormalities (6.4%), skeletal abnormalities (4.6%), and central nervous system abnormalities (4.1%). Within the cardiovascular abnormalities, the most common one was ventricular septal defect (six cases). Conclusion: In most cases PRUV is an isolated finding. Associated minor or major malformations are presented in the 23.3% of the cases, so this finding should prompt detailed prenatal assessment of the fetus, with particular regard to cardiovascular system

Electrolyte Abnormalities on ECG

The authors review the characteristic changes that hypercalcemia, hyperkalemia, hypokalemia, and other serum electrolyte abnormalities can cause on an ECG

Relationship between thoracic kyphosis and neural axis abnormalities in patients with adolescent idiopathic scoliosis.

Purpose:Previous studies have suggested an association between increased thoracic kyphosis and neural axis abnormalities in patients with adolescent idiopathic scoliosis (AIS). However, the basis for this finding is unclear, and this association has been mainly noted in retrospective studies on a non-consecutive series of patients. The purpose of this study was to assess the relationship between thoracic kyphosis and neural axis abnormalities in patients with AIS. Methods:We studied a consecutive series of AIS patients treated with spinal fusion. Thoracic kyphosis (T2 to T12) was measured from preoperative lateral radiographs. All patients underwent a spine magnetic resonance imaging (MRI) prior to surgery, and MRI reports were reviewed to determine the presence of neural axis abnormalities. Statistical analyses included descriptive statistics and chi-squared analysis. Results:This study included 210 patients with AIS. There were no significant differences in age or gender between patients with thoracic hypokyphosis (kyphosis < 20°), normal thoracic kyphosis (kyphosis 20° to 40°) and thoracic hyperkyphosis (kyphosis > 40°) (p > 0.05). Neural axis abnormalities were present in 17.9% of patients with thoracic hypokyphosis, 9.8% of patients with normal thoracic kyphosis and 13.6% of patients with thoracic hyperkyphosis (p = 0.60). There were no significant differences in rates of Chiari malformation, syrinx, intra-spinal masses and other central nervous system abnormalities between groups (p > 0.05). Conclusions:Thoracic kyphosis was not associated with neural axis abnormalities in our consecutive series of patients with AIS. Increased thoracic kyphosis may not be a reliable indicator for the presence of neural axis abnormalities in patients with AIS. Level of Evidence:IV

Structural neural networks subserving oculomotor function in first-episode schizophrenia

BACKGROUND: Smooth pursuit and antisaccade abnormalities are well documented in schizophrenia, but their neuropathological correlates remain unclear. METHODS: In this study, we used statistical parametric mapping to investigate the relationship between oculomotor abnormalities and brain structure in a sample of first-episode schizophrenia patients (n = 27). In addition to conventional volumetric magnetic resonance imaging, we also used magnetization transfer ratio, a technique that allows more precise tissue characterization. RESULTS: We found that smooth pursuit abnormalities were associated with reduced magnetization transfer ratio in several regions, predominantly in the right prefrontal cortex. Antisaccade errors correlated with gray matter volume in the right medial superior frontal cortex as measured by conventional magnetic resonance imaging but not with magnetization transfer ratio. CONCLUSIONS: These preliminary results demonstrate that specific structural abnormalities are associated with abnormal eye movements in schizophrenia

Chromosomal aberrations in transitional cell carcinoma that are predictive of disease outcome are independent of polyploidy

Objective To determine whether aneusomy for chromosomes 7, 9 and 17 (reported to predict recurrence in up to 65% of patients with superficial transitional cell bladder cancer and thus providing the opportunity for early and effective treatment) reflects specific genetic events on these chromosomes or merely wider unspecific genetic damage to the cell, e.g. that increased copy numbers for 7 and 17 reflect tumour polyploidy. Materials and methods The study comprised 25 primary tumours; 6 mu m thick sections from formalin-fixed and paraffin-embedded tumours were analysed. Chromosome copy numbers were determined by fluorescence in situ hybridization (FISH) using pericentromeric probes for chromosomes 7, 8, 9, 10, 11 and 17. A minimum of 200 nuclei per tumour area were scored by two independent observers. Results Eight of the 25 tumours examined (32%) showed no evidence of chromosomal abnormalities as detected by FISH for any chromosomes analysed. Twelve tumours (48%) showed abnormalities for one or two chromosomes, five tumours (20%) showed abnormalities for multiple chromosomes and one tumour showed abnormalities for all chromosomes analysed, suggestive of polyploidy. Conclusions Chromosomal abnormalities predictive of recurrence occur largely in the absence of other gross chromosomal lesions. In a small proportion of cases other chromosomes are affected, but this is almost always distinct from tumour polyploidy

"EEG abnormalities" may represent a confounding factor in celiac disease. A 4-year follow-up family report

Objective: The occurrence of celiac disease (CD), electroencephalographic (EEG) abnormalities (with "subtle" seizures or even without any clinical seizures), and neurological disorders has been reported since the 1980s, though there has been no definitive consensus about the possible causal relationship. This topic is further complicated by the occurrence in infancy of 'clinical-EEG pictures' called 'benign epilepsy of infancy'. Methods and results: Here, we report a 4-year follow-up on two siblings with newly diagnosed biopsy-proven celiac disease showing EEG abnormalities not responsive to a gluten-free diet. Conclusions: This family report indicates that in patients with neurologically asymptomatic CD and EEG abnormalities, it is advisable to make a differential diagnosis between EEG abnormalities associated with CD and an incidental association with cortical hyperexcitability, with "subtle" seizures or even without any clinical seizures. Practice implications: A long follow-up may sometimes be required, as it was in the family described here, to clarify the etiopathogenetic and therapeutic relationships between clinical and EEG features in CD

Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother

Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities or maternal disorders Here we report a rare case of arthrogryposis in infant of diabetic mother with multiple congenital anomalies