Orofaciodigital syndrome

Orofaciodigital syndrome is a very rare entity with X-linked dominant inheritance characterized by oral, facial, and digital anomalies. Thirteen different types have been described in the literature to date. Of these, orofaciodigital syndrome type I has the highest incidence. Renal and central nervous system malformations may accompany the oral, facial, and digital anomalies. We report a case of orofaciodigital syndrome type I in a 9-year-old girl. The patient was admitted with a complaint unrelated to the syndrome. The coexistence of an oral anomaly with a digital anomaly in this patient led us to search for other possible anomalies. Ultrasonography revealed a diagnosis of polycystic kidneys. Physicians must be mindful of the external appearance of patients with this syndrome and be aware of life-threatening anomalies possibly associated with it.     

The effect of adenotonsillectomy on serum insulin like growth factors and the adenoid/nasopharynx ratio in pediatric patients: a blind, prospective clinical study

Objectives

Obstructive adenoid and tonsillar hyperplasia may present with retardation of growth. An adenoid-nasopharynx (A/N) ratio determined by means of lateral cephalometric radiographs has long been used as a diagnostic tool in the assessment of adenoid size. This study was designed to investigate the effect of adenotonsillectomy on insulin-like growth factor-I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3) levels and correlation between A/N ratio and IGF-I and IGFBP-3 levels.

Methods

Patients (n = 48) that had been operated on our clinic with a diagnosis of adenotonsillar hypertrophy between July 2009 and January 2010 were included in the study. The routine ear-nose and throat examination was done in all patients. Blood samples were taken, and lateral cephalometric radiographs were obtained preoperatively and repeated at 6-9 months (mean 7.2 ± 1.0 mo) following tonsillectomy and adenoidectomy. The chemiluminescent enzyme-linked immunosorbent method was used to IGF-I and IGFBP-3 levels. Each cephalometric radiograph was evaluated by a blinded radiologist. The A/N ratio was calculated using the Fujioka method.

Results

When the preoperative and postoperative results were compared, a statistically significant increase in serum IGF-I and IGFBP-3 and a decreased A/N ratio were found. However, although correlation between the Δ(preoperative − postoperative difference) IGFBP-3 and ΔA/N ratio was 40%, it was not statistically significant. Additionally, no statistically significant correlation between the ΔIGF-I and ΔA/N ratio was found.

Conclusions

The results of the present study indicate that adenotonsillectomy could result in the relief of nasopharyngeal obstruction and have a positive effect on growth in children by decreasing the A/N ratio and increasing IGF-I and IGFBP-3. There was no correlation between the ΔA/N ratio and ΔIGF-I and ΔIGFBP-3 levels.     

Effects of augmentation cystoplasty on bladder contractility in rabbits

Background/Purpose

An experimental study was conducted to investigate the effects of colocystoplasty and prefabricated cystoplasty on the bladder contractility in rabbits.

Methods

Twenty-eight female New Zealand rabbits were randomly allocated into sham-operated controls, sigmoid enterocystoplasty (SECP), and prefabricated enterocystoplasty (PECP) groups. Augmentation cystoplasty with a 2-cm colon segment was performed in the SECP group. Mucosa was removed from the isolated sigmoid colon and covered with uroepithelial grafts from the bladder mucosa in the PECP group. Two weeks after the replacement of mucosa, enterocystoplasty was performed. Isometric contractions obtained by electrical field stimulation (EFS) and acetylcholine were evaluated in the bladder strips, 3 weeks after the operations.

Results

Bladder strips obtained from the experimental groups displayed similar basal rhythmic activity. Electric field stimulation elicited a frequency-dependent contractile activity, which was lower between 1 to 20 Hz stimulation in the SECP- and PECP-operated animals. Acetylcholine elicited concentration-dependent contractions in all groups. Acetylcholine-induced contractile responses were greater in the PECP group.

Conclusions

This study demonstrated that an augmented bladder prepared either with a sigmoid colon or prefabricated seromuscular flap displayed contractile activity similar to normal bladder.     

Isolated lung perfusion with Paclitaxel and docetaxel: comparison of the early effects on pulmonary physiology

BACKGROUND: This study was designed to compare the early effects of docetaxel and paclitaxel on pulmonary physiology after isolated lung perfusion. METHODS: Rats underwent isolated left lung perfusion with docetaxel in group 1 (n = 5), paclitaxel in group 2 (n = 5), and 0.9 %NaCl in the control group (n = 5). Ventilation pressures, compliance of the lungs, blood gas analysis and histopathological results were compared between the groups. RESULTS: In group 1 and group 2, the decrease in PaO (2) (p = 0.008) and increase in ventilation pressures were significantly higher than in the control group ( P = 0.016). In group 2, pCO (2) retention was higher compared to the docetaxel perfusion group ( P = 0.016). In the histochemical assessment, intra-alveolar hemorrhage and mononuclear cell infiltration were dense and perivascular edema was not present in group 1. In group 2, perivascular and intraalveolar edema were found to be dense. CONCLUSION: Perfusion by either of the chemotherapeutics resulted in an alteration of lung physiology in rat lungs. If isolated lung perfusion is administered using chemotherapeutics from the taxanes group, it is suggested that docetaxel could be the first choice for isolated lung perfusion.     

Investigation of bacteremia after orthodontic banding

The aim of this study was to assess the incidence of bacteremia after orthodontic banding. The study was conducted on 40 healthy orthodontic patients with good oral hygiene. Venous blood samples were obtained with a strict aseptic technique before and after fitting of a molar band in each patient. Microbiologic evaluation of the samples revealed a postoperative bacteremia incidence of 7.5%.     

Nocturnal enuresis in sickle cell disease and thalassemia major: associated factors in a clinical sample

In this study, we aimed to investigate the prevalence and associated factors of nocturnal enuresis in sickle cell disease (SCD) and thalassemia major (TM) patients in a single center from Turkey. One hundred and six patients, 51 (48.1 %) with TM and 55 (51.9 %) with SCD, and 80 age-matched healthy controls were included in the study. Semi-structured interviews were conducted with the caregivers of pediatric and adult patients. The interview included questions on nocturnal enuresis and psychosocial variables. Patients’ hospital files were reviewed to search for disease-related factors. Twenty-eight of the patients (26.4 %) and three (3.7 %) of the controls had nocturnal enuresis. Younger age, TM diagnosis, family history of nocturnal enuresis and family problems were found to be more frequent in patients with nocturnal enuresis. Among the patients with SCD, frequencies of hospitalization and painful crises were found to be higher in those with enuresis. According to the binary logistic regression analysis, diagnosis of TM (p = 0.031, OR = 0.262) and younger age (p = 0.005, OR = 0.869) were found to be independent risk factors for nocturnal enuresis in the patient group. Nocturnal enuresis is a common problem in children and young adults with TM and SCD. Associated factors in both conditions will be clarified with future studies.     

Unrecognized side effect of statin treatment: unilateral blepharoptosis

A 43-year-old man receiving statin monotherapy (10 mg atorvastatin) for hypercholesterolemia had unilateral blepharoptosis as the result of isolated myositis of the levator muscle. Statin-induced myositis in the levator muscle should be considered in the differential diagnosis of acquired unilateral blepharoptosis of unknown cause.