Articles dealing with late-presenting congenital diaphragmatic hernia (CDH) in children published until 2003 were collectively reviewed. The main purpose of the presented study was to gain insight into the clinical spectrum of this variant of CDH and to discuss its clinical and surgical aspects. In 125 articles, 362 patients were reported. Left posterolateral hernia was the dominant anatomical type, found in 79.4% of the children. Male-to-female distribution was nearly 2:1 in both right- and left-sided CDH. Associated anomalies were noted in 8.6% of children. Sixty-five percent of children with right CDH presented within the 1st year of life, whereas only 41.7% of patients with left CDH belonged to this age group. The children with right CDH presented with chronic symptoms in 57.4% of cases, while among those with left CDH, acute presentation prevailed, constituting 60.5% of this group. No strict correlation between age and clinical symptoms was noted, although the youngest patients tended to present with respiratory symptoms. Late-presenting diaphragmatic hernia is associated with a wide range of clinical symptoms occurring in various constellations. Dyspnea and vomiting were the most frequent symptoms found in patients with either chronic or acute manifestation. Preoperative mortality was 3.9% (14 children). In 45 children (12.4%), complications resulting from diaphragmatic hernia were noted, and in a further 11 children iatrogenic preoperative complications were noted. Among 152 children with reported CDH, true hernia with sac was found in 32.7%. Eight children (2.2%) died in the early postoperative period, while a further 13 patients (3.6%) had postoperative complications requiring surgical management. Recurrence of hernia was noted in seven children (1.9%). This collective review of basic epidemiological and clinical data from a large group of patients seems to support a hypothesis for a congenital nature of the diaphragmatic defect and an acquired nature of "herniation" of the viscera. The wide clinical spectrum of late-presenting CDH seems to be conditioned by two factors: timing of herniation and type of intraabdominal viscera displaced into the chest.

This is a review of 122 articles published until December 2003 that describe 349 children with late-presenting postero-lateral congenital diaphragmatic hernia (CDH). Data regarding pre-operative diagnostic work-up were adequately reported in 177 patients with left CDH and in 41 with a right-sided defect. Chest radiography was the only diagnostic study in 92 (51.9%) children from the former group and in 17 (43.9%) from the latter group. In other patients, diagnostic work-up encompassed various combinations of two or more imaging modalities. Apart from chest radiography, contrast study of the upper gastrointestinal tract was the most frequently performed imaging modality. In 88 (25.2%) children, initial radiographic features of CDH were misinterpreted. Pneumothorax and pleural effusion were the most common initial findings. Analysis of the hernial content in this group of patients has shown that herniation of the stomach, spleen or omentum should be regarded as risk factors for misdiagnosis of left CDH, whereas for right CDH, the risk factor is the presence of liver in the chest. Late-presenting CDH may pose a significant diagnostic problem because of the great variability of radiographic appearance. Chest radiography following passage of a nasogastric tube and contrast studies of the gastrointestinal tract seem to be the most useful investigations for the diagnosis of left CDH. For patients with right CDH, owing to the high probability of liver herniation, a chest radiograph with liver scintigraphy or CT seems to be the best diagnostic option.

Asynchronous torsion is not as rare an event as previously reported, and it may pose a diagnostic challenge. In the majority of these cases torsion of the left testis seems to occur later than torsion of the right testis. The role of imaging studies in newborns with bilateral torsion seems to be limited, especially in cases of asynchronous pathology. Urgent bilateral exploration is strongly advised in all newborns presenting with either unilateral or bilateral torsion. Such policy carries diagnostic, potential therapeutic and prognostic implications.

These recommendations are created by the group of delegates of the National Societies, which declare their willingness to participate in the preparation of the revised version of the Polish Guidelines. The members of the Working Group have been chosen from the specialists involved in medical care of patients with thyroid carcinoma. Directly before the preparation of the Polish national recommendations the American Thyroid Association (ATA) published its own guidelines together with a wide comment fulfilling evidence-based medicine (EBM) criteria. ATA Guidelines are consistent with National Comprehensive Cancer Network (NCCN) Recommendation. According to the members of the Working Group, it is necessary to adapt them to both the specific Polish epidemiological situation as well as to the rules referring to the Polish health system. Therefore, the Polish recommendations constitute a consensus of the experts' group, based on ATA information. The experts analysed previous Polish Guidelines, published in 2010, and other available Diagnostics and Treatment of Thyroid Carcinoma Barbara Jarząb et al.

Visceral myopathy with abnormal intestinal and bladder peristalsis includes a clinical spectrum with megacystis-microcolon intestinal hypoperistalsis syndrome and chronic intestinal pseudo-obstruction. The vast majority of cases are caused by dominant variants in ACTG2; however, the overall genetic architecture of visceral myopathy has not been well-characterized. We ascertained 53 families, with visceral myopathy based on megacystis, functional bladder/gastrointestinal obstruction, or microcolon. A combination of targeted ACTG2 sequencing and exome sequencing was used. We report a molecular diagnostic rate of 64% (34/53), of which 97% (33/34) is attributed to ACTG2. Strikingly, missense mutations in five conserved arginine residues involving CpG dinucleotides accounted for 49% (26/53) of disease in the cohort. As a group, the ACTG2-negative cases had a more favorable clinical outcome and more restricted disease. Within the ACTG2-positive group, poor outcomes (characterized by total parenteral nutrition dependence, death, or transplantation) were invariably due to one of the arginine missense alleles. Analysis of specific residues suggests a severity spectrum of p.Arg178>p.Arg257>p.Arg40 along with other less-frequently reported sites p.Arg63 and p.Arg211. These results provide genotype-phenotype correlation for ACTG2-related disease and demonstrate the importance of arginine missense changes in visceral myopathy. K E Y W O R D SACTG2, dysmotility, megacystis-microcolon intestinal hypoperistalsis, smooth muscle, visceral myopathy