Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature

Chromosomal imbalances are a major cause of intellectual disability (ID) and multiple congenital anomalies. We have clinically and molecularly characterized two patients with chromosome translocations and ID. Using whole genome array CGH analysis, we identified a microdeletion involving 4q21.3, unrelated to the translocations in both patients. We confirmed the 4q21.3 microdeletions using fluorescence in situ hybridization and quantitative genomic PCR. The corresponding deletion boundaries in the patients were further mapped and compared to previously reported 4q21 deletions and the associated clinical features. We determined a common region of deletion overlap that appears unique to ID, short stature, hypotonia, and dysmorphic facial features.     

Tratamiento laparoscópico del quiste dermoide de ovario. Factores asociados a la rotura intraoperatoria, trascendencia clínica y resultados

Objective

To analyze the surgical characteristics of laparoscopic treatment of dermoid cyst and the factors associated with intraoperative spillage and its clinical importance.

Material and methods

A retrospective research was performed of 131 dermoid cysts treated by laparoscopy at the Virgen de las Nieves University Hospital from January 2000 to December 2008.

Results

The mean age of the patients was 32.4 years. The mean size of the cysts was 63.8 mm. In 62.6% of the patients, conservative surgery (cystectomy) was feasible. Only two patients needed reintervention due to bleeding complications. The mean length of hospital stay was 1.6 days. Intraoperative spillage was more common when cystectomy was performed. There were no cases of peritonitis.

Conclusions

Laparoscopic surgery is the first treatment option in the management of ovarian dermoid cysts. There are few complications and healing is rapid. Spillage is usually clinically unimportant.     

Impact of in utero exposure to EtOH on corpus callosum development and paw preference in rats: protective effects of silymarin

Background  

Using a rat model we have found that the bioflavonoid silymarin (SY) ameliorates some of the negative consequences of in utero exposure to ethanol (EtOH). In the current study our aim was to determine if laterality preference and corpus callosum development were altered in rat offspring whose mothers were provided with a concomitant administration of SY with EtOH throughout gestation.     

Microstructural trabecular bone from patients with osteoporotic hip fracture or osteoarthritis: Its relationship with bone mineral density and bone remodelling markers

Osteoporosis (OP) and osteoarthritis (OA) are the most prevalent musculoskeletal disorders in the elderly but the relationship between them is unclear. The purposes of this study are to analyze the bone turnover markers (BTM), bone mineral density (BMD) and the structural and mechanical properties of trabecular bone in patients with OP and OA, and to explore the relationship between these two diseases. We studied 12 OP patients and 13 OA patients. We analyzed BTM (β-CrossLaps and PINP), BMD and microstructural and biomechanical parameters (micro-CT). Our results were: OP group has higher levels of β-CrossLaps and lower BMD at the femoral neck. Also, OP patients have a decreased volume of trabecular bone and less trabecular number, with architecture showing prevalence of rod-like trabeculae and worse connectivity than OA patients. The biomechanical parameters were worse in OP patients. BMD was correlated with almost all the structural and biomechanical parameters. Moreover, β-CrossLaps was negatively correlated with hip BMD and with bone surface density and positively with trabecular separation. BTM, BMD and bone microstructural changes in osteoporosis are opposite to those of OA. These findings justify a less resistant bone with higher risk of fragility fractures in OP patients. These histomorphometric and biomechanical changes may be suspected by measuring of BMD and β-CrossLaps levels.     

Quiste de Tarlov: diagnóstico durante el puerperio

Tarlov cysts, also called extradural cysts, consist of perineural space ectasia of the spinal nerve roots, usually located distal to the dorsal root ganglia or in the junction with this structure. The most frequent location is in the sacral region. The etiology remains uncertain. Most Tarlov cysts are asymptomatic, but they can cause lumbar or root irritative symptoms¹. We describe a case of Tarlov cyst presenting as radicular symptoms during the postpartum period.     

Design of a phantom for the quality control of high dose rate 192Ir source used in brachytherapy.

BACKGROUND AND PURPOSE: A new phantom is proposed for measuring the strength of 192Ir high dose rate sources and for verification of the dose calculated by the treatment planning system. The complete formalism and measurement procedure for this phantom is described, as well as the preliminary results obtained in a number of centers around Brazil. MATERIALS AND METHODS: The measurements are performed using powder thermoluminescent dosimeter capsules; the source strength is measured in air and the verification of the dose calculation algorithm in water phantom. The correction factors required to take into account the specificities related to the geometry and the phantom materials have been assessed using the PENELOPE Monte Carlo code and experimental methods. The dedicated phantom, constructed to use as part of a QA program, in this case specifically for high dose rate 192Ir brachytherapy sources, allows simultaneous irradiation of three thermoluminescent dosimeter capsules, requiring only one source stop (dwell positions). RESULTS: The phantom was mailed to seven radiotherapy institutions in Brazil, and the results show its usefulness in verifying the source air kerma and correctness of treatment planning dose calculation in water phantom. CONCLUSIONS: The comparison made between the phantom measurements, the well-type ionization chamber, and source specifications stated by the hospital (most of the times provided by the source manufacturer) agreed within 3% showing the quality in the HDR dose delivery in Brazilian radiotherapy centers.     

Clinical trial of home available, mixed diets versus a lactose-free, soy-protein formula for the dietary management of acute childhood diarrhea

A randomized clinical trial was completed to study the severity, duration, and nutritional outcome of acute diarrhea in 85 Peruvian children between 5 and 24 months of age who received a soy-protein-isolate, lactose-free formula (group SF) or one of two mixtures of home-available foods, all in amounts up to 110 kcal/kg of body weight/day. The mixed diets contained either wheat flour, pea flour, carrot flour, sucrose, and vegetable oil (group WP) or potato flour, dried whole milk, carrot flour, sucrose, and oil (group PM). The characteristics of the children in each group were generally similar initially. There were no differences in treatment failure rate by diet group. Fecal outputs were similar in all groups during the first day of treatment, averaging 60 to 65 g/kg/day. However, stool outputs were greater for the PM group than for other groups on days 3 and 4, and were less for the SF group than the other groups on days 5 and 6. The estimated median durations of diarrhea in the WP group (52 h) and PM group (53 h) were significantly less than in the SF group (154 h, p = 0.005). Energy intakes, energy absorption, and nitrogen retention (% of intake) were generally similar in all dietary groups, although there were minor differences in the absorption of specific macronutrients. Children in all groups gained weight during hospitalization, and there were no significant differences by diet group in the change in anthropometric status during treatment. We conclude that these locally available, low-cost staple food mixtures offer a safe and nutritionally adequate alternative to a commercially produced lactose-free formula for the dietary management of young children with acute diarrhea in this setting.