Evaluation of catch-up growth in severe pediatric Hashimoto's hypothyroidism.

BACKGROUND: We aimed to evaluate catch-up growth in children with severe Hashimoto's hypothyroidism (HH) after thyroid hormone replacement therapy (HRT). METHODS: A multicenter retrospective study was conducted including children referred for growth slowdown that led to the diagnosis of HH between 1998 and 2017. RESULTS: A total of 29 patients were included, with a median age of 9.7 years (13-172 months). Median height at diagnosis was -2.7 [-4.6; -0.1] standard deviation score (SDS), with a height loss of 2.5 [0.7; 5.4] SDS compared to height before growth deflection (p<0.0001). At diagnosis, the median TSH level was 819.5 mIU/L [100; 1844], the median FT4 level was 0 pmol/L [undetectable; 5.4], and the median anti-thyroperoxidase antibody level was 1601 UI/L [47; 25,500]. In the 20 patients treated only with HRT, there were significant differences between height at diagnosis and height at 1 year (n = 19, p<0.0001), 2 years (n = 13, p = 0.0005), 3 years (n = 9, p = 0.0039), 4 years (n = 10, p = 0.0078), and 5 years (n = 10, p = 0.0018) of treatment but not in the case of final height (n = 6, p = 0.0625). Median final height was -1.4 [-2.7; 1,5] SDS (n = 6), with a significant difference between height loss at diagnosis and total catch-up growth (p = 0.003). The other nine patients were also given growth hormone (GH). They were smaller at diagnosis (p = 0.01); however, there was no difference in final height between those two groups (p = 0.68). CONCLUSION: Severe HH can lead to a major height deficit, and catch-up growth seems to be insufficient after treatment with HRT alone. In the most severe cases, administration of GH may enhance this catch-up.

Checklist for follow-up of adolescents with chronic illness. A monitoring tool to help prepare the transition from pediatric to adult care.

Adolescence can be a particularly challenging period for individuals with a chronic illness. To help the specialized healthcare teams, an expert panel drafted a checklist of topics to be addressed throughout adolescence that are often not covered in subspecialty clinic visits such as peers, coping, adherence, understanding of illness, sexuality, etc., since these topics apply to youth with special healthcare needs. Each member of the specialized team can discuss one of the themes according to their role with the adolescent as a doctor, educator, nurse, dietician, etc. The coherence of the team enables a comprehensive approach and will facilitate the transition to adult medical care.

Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge.

The persistent Müllerian duct syndrome (PMDS) is defined by the persistence of Müllerian derivatives in an otherwise normally virilized 46,XY male. It is usually caused by mutations in either the anti-Müllerian hormone (AMH) or AMH receptor type 2 (AMHR2) genes. We report the first cases of PMDS resulting from a microdeletion of the chromosomal region 12q13.13, the locus of the gene for AMHR2. One case involved a homozygous microdeletion of five exons of the AMHR2 gene. In the second case, the whole AMHR2 gene was deleted from the maternally inherited chromosome. The patient's paternal allele carried a stop mutation, which was initially thought to be homozygous by Sanger sequencing. Diagnostic methods are discussed, with an emphasis on comparative genomic hybridization and targeted massive parallel sequencing.

Pubertal growth spurt in patients with bilateral anorchia after testosterone replacement therapy.

Anorchia, the absence of testes in 46,XY boys, is a very rare condition. It has been suggested that the testicular tissue disappears during pregnancy, as a result of a vascular accident associated with torsion or a genetic cause. Because pubertal growth spurt is directly influenced by androgen exposure, we decided to evaluate the pubertal height gain in nine patients with anorchia who were followed up at the pediatric endocrinology unit of Bicêtre University Hospital. We retrospectively included nine patients with bilateral anorchia whose puberty had been induced by androgen replacement therapy and for whom final height measurements were available. Data were obtained from medical records. Mean gain in pubertal height was 21.7±2.3cm, lower than the expected gain during puberty (25cm, P<0.005). Despite limited experience in this rare condition, androgen replacement therapy seems to allow for good pubertal growth spurt in adolescents with anorchia. However, formal protocols for androgen therapy during puberty may need to be optimized.

Hypocalcaemic and hypophosphatemic rickets.

Rickets refers to deficient mineralization at the growth plate and is usually associated with abnormal serum calcium and/or phosphate. There are several subtypes of rickets, including hypophosphatemic rickets (vitamin-D-resistant rickets secondary to renal phosphate wasting), vitamin D-dependent rickets (defects of vitamin D metabolism) and nutritional rickets (caused by dietary deficiency of vitamin D, and/or calcium, and/or phosphate). Most rickets manifest as bone deformities, bone pain, and impaired growth velocity. Diagnosis of rickets is established through the medical history, physical examination, biochemical tests and radiographs. It is of crucial importance to determine the cause of rickets, including the molecular characterization in case of vitamin D resistant rickets, and initiate rapidly the appropriate therapy. In this review, we describe the different causes and therapies of genetic and nutritional rickets, supported by the recent progress in genetics and development of novel molecules such as anti-FGF23 antibody.

The adequacy of basic intraoperative transesophageal echocardiography performed by experienced anesthesiologists.

UNLABELLED: Transesophageal echocardiography (TEE) may improve intraoperative decision-making and patient outcome if it is performed and interpreted correctly. After revising our TEE examination to fulfill the published guidelines for basic TEE practitioners, we prospectively evaluated the ability of our cardiac anesthesiologists (all very experienced with TEE) to record and interpret this revised examination. Educational aids and regular TEE performance feedback were provided to the anesthesiologists. Their interpretations were compared with the independently determined results of experts. Compared with their own historical controls (42% recording rate), all anesthesiologists showed significant improvement in their ability to record a basic intraoperative TEE examination resulting in 81% (P < 0.0001) of all required images being recorded: 88% before cardiopulmonary bypass, 77% immediately after bypass, and 64% after chest closure. Seventy-nine percent of the images recorded at baseline were correctly interpreted, 6% were incorrectly interpreted, and 15% were not evaluated. Our attempt to assess compliance with published guidelines for basic intraoperative TEE resulted in a marked improvement in our intraoperative TEE practice. Most, but not all, standard cross-sections are recorded or interpreted correctly, even by highly experienced and motivated practitioners. IMPLICATIONS: Experienced cardiac anesthesiologists can obtain and correctly interpret most basic intraoperative transesophageal echocardiograms.

The diagnostic validity of digitally captured intraoperative transesophageal echocardiography examinations compared with analog recordings: A pilot study.

BACKGROUND: Digital acquisition and storage of echocardiographic studies offer many advantages over analog recordings, but the amount of computer memory required may be large. "Computer compression" of data is done by machines with various algorithms. "Clinical compression" involves limiting the recordings to 1-beat loops, and although it is commonly used, its diagnostic validity has not been demonstrated in the operating room. METHODS: This prospective pilot study looked at 51 patients undergoing transesophageal echocardiography during cardiac surgery. During continuous videocassette recording, we captured digital loops to demonstrate wall motion abnormalities, ventricular systolic function, aortic insufficiency, and mitral regurgitation. Experts reviewed the loops and tapes. We then compared the diagnoses from the 2 methods. RESULTS: There were major differences in the diagnosis of wall motion between loops and tapes in only 3.4% of myocardial segments. No major differences were seen in the diagnosis of systolic function, aortic insufficiency, or mitral regurgitation in any patients. CONCLUSION: We conclude that clinical compression is a suitable method to compress data in the operating room. Large numbers of patients are required to definitively demonstrate the small differences.

Improved evaluation of the location and mechanism of mitral valve regurgitation with a systematic transesophageal echocardiography examination.

UNLABELLED: Mitral regurgitation (MR) is a major determinant of outcome in cardiac surgery. The location and mechanism of mitral lesions determine the approach to various repairs and their feasibility. Because of incomplete evaluations or change in patient condition, detailed intraoperative transesophageal echocardiography (TEE) examination of the mitral valve may be required. We hypothesized that a systematic TEE mitral valve examination would allow precise identification of the anatomic location and mechanism of MR in patients undergoing mitral surgery. We designed a systematic mitral valve examination consisting of six views: five-chamber, four-chamber, two-chamber anterior, two-chamber mid, two-chamber posterior and short-axis. We used this examination prospectively in 13 patients undergoing mitral valve surgery for severe MR and compared the results with the surgical findings. We then retrospectively interpreted 11 similar patients who had undergone intraoperative TEE studies before this examination. TEE correctly diagnosed the mechanism and precise location of pathology in 12 of 13 patients in the prospective group, but in only 6 of 10 patients in the retrospective group. TEE also correctly identified 75 of 78 mitral segments (96%) as being normal or abnormal. In the retrospective group, only 42 of 60 segments (70%) were correctly identified (P < 0.001). We conclude that this systematic TEE mitral valve examination improves identification of mitral segments and precise localization of pathologies and may also improve the diagnosis of the mechanism of MR. IMPLICATIONS: In this article, we describe how a systematic examination of the mitral valve by using transesophageal echocardiography allows identification of the different segments of the mitral valve, precise localization of pathology, and helps to diagnose the mechanism of mitral regurgitation. This is important in determining an approach to mitral valve repair and its feasibility.

Ontogeny of proximal colon basolateral membrane lipid composition and fluidity in the rabbit.

Basolateral membranes from rabbit proximal colon were prepared from isolated colonocytes throughout postnatal maturation, using a modification of published techniques. In suckling (14-20 day) and post-weaning/mature (35-49 day) animals, membranes were purified approx. 10-fold, based upon the enrichment of ouabain-sensitive, sodium-potassium dependent adenosine triphosphatase activity. Membrane lipid analyses demonstrated age-dependent increases in total cholesterol and the cholesterol/phospholipid molar ratio, as well as decreases in phosphatidylethanolamine content and the fatty acid unsaturation index. Fluidity of basolateral membranes and membrane liposomes, determined from fluorescence anisotropy measurements using the lipid probes 1,6-diphenyl-1,3,5-hexatriene and DL-12-(9-anthroyl)stearic acid, demonstrated significant, ontogenic decreases in fluidity; and, additional studies showed that fluidity changes occurred early in the weaning period (by day 24 postnatally). Arrhenius plots of liposome anisotropies suggested a bilayer lipid thermotropic transition temperature of 22 degrees C in sucklings 26 degrees C in mature rabbits. These findings demonstrate that ontogeny of colonic basolateral membranes is associated with significant modulations in lipid composition and fluidity.