Bone pain and extremely low bone mineral density due to severe vitamin D deficiency in celiac disease

Case report A 29-year-old wheelchair-bound woman was presented to us by the gastroenterologist with suspected osteomalacia. She had lived in the Netherlands all her life and was born of Moroccan parents. Her medical history revealed iron deficiency, growth retardation, and celiac disease, for which she was put on a gluten-free diet. She had progressive bone pain since 2 years, difficulty with walking, and about 15 kg weight loss. She had a short stature, scoliosis, and pronounced kyphosis of the spine and poor condition of her teeth. Laboratory results showed hypocalcemia, an immeasurable serum25-hydroxyvitamin D level, and elevated parathyroid hormone and alkaline phosphatase levels. Spinal radiographs showed unsharp, low contrast vertebrae. Bone mineral density measurement at the lumbar spine and hip showed a T-score of -6.0 and -6.5, respectively. A bone scintigraphy showed multiple hotspots in ribs, sternum, mandible, and long bones. A duodenal biopsy revealed villous atrophy (Marsh 3C) and positive antibodies against endomysium, transglutaminase, and gliadin, compatible with active celiac disease. A bone biopsy showed severe osteomalacia but normal bone volume. She was treated with calcium intravenously and later orally. Furthermore, she was treated with high oral doses of vitamin D and a gluten-free diet. After a few weeks of treatment, her bone pain decreased, and her muscle strength improved. Discussion In this article, the pathophysiology and occurrence of osteomalacia as a complication of celiac disease are discussed. Low bone mineral density can point to osteomalacia as well as osteoporosis. © International Osteoporosis Foundation and National Osteoporosis Foundation 2011

Compensatory enlargement of a solitary functioning kidney during fetal development

Objective To determine the degree of compensatory enlargement, and its time of onset, of the solitary functioning kidney (SFK) in fetuses with unilateral renal agenesis (URA) or unilateral multicystic kidney dysplasia (MCKD). methods This was a retrospective study of fetuses with URA or MCKD diagnosed prenatally and confirmed postnatally in the period from January 1999 to May 2011. Fetuses with any other congenital anomalies were excluded. Measurements of kidney length were retrieved from our prenatal ultrasound database and a nomogram was established and compared with that for normal kidney length. results In total, 67 fetuses were identified, 60 with MCKD and seven with URA, for which we obtained 147 kidney length measurements from our database. Mean gestational age at time of measurement was 29.7 (range, 18.436.7) weeks. Compensatory enlargement, defined as renal length >95th percentile for gestational age, was demonstrated in 87% of the MCKD cases and 100% of the URA cases (88% of cases overall). We estimated the mean enlargement for an SFK (defined as difference from 50th percentile for normal renal length) at 36 weeks' gestation to be 23.1% (9.25 mm), with the mean value being 11.4% (5.04 mm) greater than the 95th percentile for a normal kidney at this gestational age. Compensatory enlargement of SFKs was evident from the 20th week of gestation onwards. Conclusion Compensatory enlargement of SFKs occurs in almost 90% of fetuses with MCKD or URA, and may be observed from the 20th week of gestation onwards

Hypothesis acardiac twin pregnancies: Pathophysiology-based hypotheses suggest risk prediction by pump/acardiac umbilical venous diameter ratios

Item does not contain fulltextBACKGROUND: A total of 75% of monozygotic twins share 1 monochorionic placenta where placental anastomoses cause several serious complications, for example, acardiac twinning. Acardiac twins lack cardiac function but grow by perfusion of arterial blood from the pump twin. This rare pregnancy has 50% natural pump twin mortality but accurate risk prediction is currently impossible. Recent guidelines suggest prophylactic surgery before 18 weeks, suggesting 50% unnecessary interventions. We hypothesize that (1) adverse pump twin outcome relates to easy-to-measure pump/acardiac umbilical venous diameter (UVD) ratios, representing acardiac perfusion by the pump's excess cardiac output. This hypothesis suggests that (2) UVD-ratios are large, mildly varying in cases without complications but small and decreasing when complications develop, thus predicting that (3) UVD-ratios may allow risk prediction of pump twins. In this exploratory clinical pilot, we tested whether UVD-ratio measurements support these predictions. METHODS: We included 7 uncomplicated (expectant management), 3 elective surgical, and 17 complicated cases (pump decompensation, emergency intervention/delivery or demise). Nine UVD-ratios were measured sonographycally and 18 by pathology. RESULTS: Uncomplicated cases have larger, two serial measurements showing mildly varying UVD-ratios; elective surgical cases show larger UVD-ratios; complicated cases have smaller, two serial measurements showing decreasing UVD-ratios. There were no false-positives, no false-negatives and noncrossing linear trendlines of uncomplicated and complicated cohorts. CONCLUSION: Our data provide first evidence that UVD-ratios allow risk prediction of pump twins. More early uncomplicated and late complicated cases are needed, for example, in a prospective trial, before the separation between uncomplicated and complicated cohorts is accurate enough to support a well-founded decision on (early) intervention. Birth Defects Research (Part A) 106:114-121, 2016. (c) 2015 Wiley Periodicals, Inc

Multi-task CNN for structural semantic segmentation in 3D fetal brain ultrasound

The fetal brain undergoes extensive morphological changes throughout pregnancy, which can be visually seen in ultrasound acquisitions. We explore the use of convolutional neural networks (CNNs) for the segmentation of multiple fetal brain structures in 3D ultrasound images. Accurate automatic segmentation of brain structures in fetal ultrasound images can track brain development through gestation, and can provide useful information that can help predict fetal health outcomes. We propose a multi-task CNN to produce automatic segmentations from atlas-generated labels of the white matter, thalamus, brainstem, and cerebellum. The network as trained on 480 volumes produced accurate 3D segmentations on 48 test volumes, with Dice coefficient of 0.93 on the white matter and over 0.77 on segmentations of thalamus, brainstem and cerebellum

Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan

The results of a chromosomal test by genetic amniocentesis in 58 cases with anincreased nuchal translucency (NT; ?3 mm thickness) revealed 47 cases showing anormal karyotype (81%) and 11 cases (19%) showing an abnormal karyotype. However,the cases of a normal karyotype with increased NT also included those with fetalabnormalities. Among the 49 cases in which NT was observed during the 1st trimesterand then subsequently disappeared, chromosomal abnormalities were observed in 5cases, and fetal abnormalities other than chromosomal abnormalities were observed in 2cases. Meanwhile, all 9 cases in which an increased NT remained or in which NTcontinued to increase in size during the 2nd trimester were diagnosed to have cystichygroma, and chromosomal abnormalities were found in 6 cases (67%). It should benoted that the shape of increased NT includes NT with a notch (Notched NT) and NTwithout a notch (Smoothed NT). Among the 20 cases of Notched NT, chromosomalabnormalities were observed in 8 cases (40%), and cystic hygroma was observed in 9cases (45%). On the other hand, among the 38 cases of Smoothed NT, chromosomal abnormalities were observed in 3 cases (7.9%), but no cystic hygroma was observed.Our results clarified that increased NT does not always indicate a fetalabnormality. Whether the thickness of NT should be measured as screening of fetalabnormalities remains controversial. However, an increased NT may be detected bychance, because a maternal-fetal medical examination using ultrasonography is usuallyperformed in Japan. It is therefore considered to be extremely important to establish asystem in which cases are referred to obstetricians who are licensed clinical geneticspecialists in order to obtain appropriate genetic counseling whenever an increased NTis clinically observed