Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.

BACKGROUND: Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal dysplasias. The radiological hallmark of SBD is the snail-like configuration of the hypoplastic iliac bone. SLC35D1 (solute carrier-35D1) is a nucleotide-sugar transporter involved in proteoglycan synthesis. Recently, based on human and mouse genetic studies, we showed that loss-of-function mutations of the SLC35D1 gene (SLC35D1) cause SBD. OBJECT: To explore further the range of SLC35D1 mutations in SBD and elucidate whether SLC35D1 mutations cause other skeletal dysplasias that belong to the SSDD group. METHODS AND RESULTS: We searched for SLC35D1 mutations in five families with SBD and 15 patients with other SSDD group diseases, including achodrogenesis type 1A, spondylometaphyseal dysplasia Sedaghatian type and fibrochondrogenesis. We identified four novel mutations, c.319C>T (p.R107X), IVS4+3A>G, a 4959-bp deletion causing the removal of exon 7 (p.R178fsX15), and c.193A>C (p. T65P), in three SBD families. Exon trapping assay showed IVS4+3A>G caused skipping of exon 4 and a frameshift (p.L109fsX18). Yeast complementation assay showed the T65P mutant protein lost the transporter activity of nucleotide sugars. Therefore, all these mutations result in loss of function. No SLC35D1 mutations were identified in all patients with other SSDD group diseases. CONCLUSION: Our findings suggest that SLC35D1 loss-of-function mutations result consistently in SBD and are exclusive to SBD.

[Thyroid carcinoma in pediatrics: a 30-year follow-up]. / Carcinoma de tiroides en pediatría: seguimiento a 30 años.

INTRODUCTION: The thyroid tumours are infrequent neoplasms of presentation in paediatric. The object of this study was to value therapeutic evolution and the survival throughout 30 years. MATERIALS: 28 cases with diagnosis of thyroid carcinoma. Were reviewed from 1978 to 2008. Were the variables to study: epidemiologists, methods used diagnostic, type of histology, later treatment and survival to 300 months to the treatment. We like considered significant p <0.05. RESULTS: 73.1% of the cases were of feminine sex. The average age was 12.3 years (1.6 to 19). The ultrasound was asked for the test more (78.5%). The RET mutation associated appear in three cases to MEN. The histology type to papillary was most frequent (50%). The total thyroidectomy (TT) was the surgery practice more (67.9%). The radioiodine (RI) was used in 46.4% of the cases. The substitute hormonal therapy was used 27 patients. 89.29% of the were series after 300 months free of disease. CONCLUSIONS: The treatment of the series these are hundreds throughout 30 years, but when valuing our experience we include / understand that: 1) the TT with selective lymphatic dissection, 2) it in the RI cases with positive to the body tracking and/or of factors of risk and 3) the substitute hormonal therapy, is the at the moment best offer alternatives to than we can these paediatric patients and prolong the survival in adult its age.

[Renal dynamics: comparison between diuretic renogram and magnetic resonance imaging]. / Dimámica renal: comparación entre el renograma diurético y la resonancia magnética.

OBJECTIVE: This study aimed to establish a comparison between the data obtained in the renal functional study through magnetic resonance using gadolinium with diuretic (furosemide) charge (MR-Gd/F), on the one hand, and the parameters obtained with the classical diuretic renogram (DR) (differential renal function -DRF- and renographic curve -RC-), on the other hand. MATERIAL AND METHOD: 10 patients were studied, 6 male and 4 female, aged between 1 month and 6 year-old. All the patients were submitted to a MR-Gd/F and a DR. In both cases, furosemide was used as overload. The pathologies observed included syndrome of the pyeloureteral junction, polar vessel, ureter valve, ectopic ureter, duplex kidney, renal dysplasia, renal ectasy, pelvic kidney and horseshoe kidney. The percentage of gadolinium uptake was compared versus the DRF, and the MR curve was compared versus the RC. Surgical treatment was required in 5 cases and an expectancy behaviour was taken in 3 cases. Among the operated patients, the diagnosis accurry was confirmed by the surgery and the pathological study. RESULTS: A 80% consistency was found between the gadolinium uptake and the DRF. There was a 90% correlation between the MR-Gd/F curve and the RC. In two cases, the MR-Gd/F required to modify the surgical criterion -previously based on the DR- and an expectancy behaviour was taken. In 90% of the operated cases, the diagnostic assumption obtained through the MR-Gd/F coincided with the surgical and pathological findings, whereas there was a coincidence in just 60% of the cases studied through the DR (p > 0.0008). CONCLUSIONS: The MR offers a real time study: anatomical, vascular and functional. Good correlation between DR and MR with respect to: (% DRF,%Gd MR and diuretic curve). The MR demonstrates greater precision in diagnosis.The MR allows recognition of non obstructive polar vessels that can then be conservatively managed.

[Comparison between MRI and the techniques traditionally used in the study of uropathies in children]. / Análisis prospectivo y comparativo entre la resonancia magnética y las exploraciones tradicionales utilizadas en el estudio de las uropatías con afectación funcional del niño.

BACKGROUND: To correlate the anatomical and functional information obtained using MRI in comparison to the techniques traditionally used in the study of uropathies, and to compare their physical and socioeconomic impacts. METHODS: For a period of eleven months we carried out a prospective study of 22 patients of both sexes ranging in age from 1 to 180 months. All suffered from one or another uropathy. Fifty-five percent of the patients were from external consultation while 45% had been diagnosed prenatally. The imaging techniques compared with MRI were as follows: echography, renogram, renal DMSA scan, urography and cystography. For the MRI gadolinium was used, as well as general anesthesia in some cases. RESULTS: There was a significant correlation (r = 0.942 p < 0.01) between MRI and the traditional explorations for the diagnosis of hydronephrosis, horseshoe kidney, kidney duplication, kidney hypoplasia and hypertrophy, multicystic kidney, ureterocele, pyeloureteral stenosis, vesicoureteral stenosis, atrophy of the renal artery, and missing kidney. It was not useful for reflux. Comparing to renal function differential on renogram there was an 86% agreement between the results. The average number of visits was 5.7 and missed workdays 4.1. The cost as a result of MRI was less than that for other explorations (Chi2 = 27,909 p < 0.001). CONCLUSIONS: MRI provides the same information, both morphological and concerning functional quality, as well as vascular, as that obtained through traditional explorations. Irradiation with MRI is nil. At times it requires anesthesia. Its practice reduces costs, visits, missed workdays, and travel time. In the future it could probably be possible to carry out cystography and hydric/diuretic overload testing at the same time, the efficacy will be increased.

[Salivary calculi in children]. / Litiasis salival en la infancia.

UNLABELLED: The main salivary glands are the submaxillary, sublingual and parotid glands. Infectious and tumoral conditions are prominent in the parotid gland whilst calculi are in submaxillary and sublingual glands. METHODS. Medical record review of 18 cases with a diagnosis of salivary calculi over a 13 year period. Data collected consisted in, clinical presentation, ultrasound (US), sialography (SG) and computarized tomography (CT), and treatment. RESULTS: 13 male and 5 female. Mean age was 7.2 years. All of them presented with pain and tenderness. Parotid gland was affected in 10 cases. An infectious cause for calculi was found in 7 while 3 presented calculi with no underlying infectious cause. Submaxillary gland was affected in 6 and sublingual in 2. No infectious condition was associated to submaxillary and sublingual calculi. Surgical treatment consisted in duct canalization for calculi removal and was performed in all patients after initial treatment with antibiotics. Neither complications nor relapse was found after surgical removal. CONCLUSIONS: Diagnosis of salivary calculi is made by clinical symptoms and imaging exams. Treatment is surgical and has to be performed after medical treatment for infection and inflamation.

[Palatal necrosis in children. Case report]. / Necrosis palatina en el lactante. A propósito de un caso.

Palate necrosis as a consequence of palate infection it's an exceptional condition about there's not too much references at literature. We present a case of a 6 months old child who present a palatal necrosis after a supurative medial otitis that involved hard and soft palate, with positive culture for Pseudomona aeruginosa causing a almost complete absence of the palate that simulate a bilateral palatal cleft.

[Mesenteric flow in an experimental model of ischaemia-reperfusion in rats]. / Flujo mesentérico en un modelo experimental por isquemia-reperfusión en ratas.

INTRODUCTION: Maintained acute occlusion followed by reperfusion of the superior mesenteric artery (SMA) in a few hours can trigger irreversible bowel damage. The aim of the study was to determine the changes in mesenteric flow measured by colour Doppler Ultrasound and correlating with histological lesions in an experimental model of ischaemia-reperfusion. METHOD AND MATERIAL: Three groups of Sprague-Dawley 17 day-old rats were studied (control, ischemia and reperfusion). The model used was ischaemia-reperfusion over the SMA. Intra-abdominal ultrasound was then performed. The parameters recorded were: Maximum systolic velocity (MSV), pulsatility index (PI), resistance (RI) and systole-diastole (S/D). The histological variables were: intestinal lesion (Wallace/Keenan-Chiu scale), morphometrics (mean villus height [MVH]), and goblet cells. The Spearman (rs) correlation was used. RESULTS: The MSV in the reperfusion group was 74.3 cm/s, the PI 7.33 and S/D 25.75 in the SMA, which were higher than the controls (41.35 cm/s; 3.12 and 12.45, respectively). A direct association (P<.01) was found between MSV, PI and S/D regarding: Wallace/Kennan scoring system (rs = 0.655; rs = 0.593; rs = 0.63) and the Chiu (rs = 0.569; rs = 0.522; rs = 0.47). While the correlation was the reverse (P<.01) when associated with the MVH (rs = -0,495; rs = -0,452; rs = -0,459) and goblet cells of the colon (rs = -0,525; rs = -0,45; rs = -0,518). CONCLUSIONS: The reperfusion phase increased mesenteric flow expressed by the MSV and PI and could significantly predict the potential bowel damage at macroscopic and microscopic level.