AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM.

The Joubert syndrome is characterized by hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern and cognitive impairment. The molar tooth sign is the pathognomonic midbrain-hindbrain malformation for Joubert syndrome. Joubert syndrome and related disorders (JSRD), are the clinically and genetically heterogen disorders in which the obligatory hallmark is the molar tooth sign (MTS). In this report, it was described the association of the molar tooth sign, absence of pituitary gland and corpus callosum agenesis on an infant with JSRD. To the best of our knowledge, this is the first case diagnosed as JSRD and panhypopituitarism without features of OFD VI.

A comparative life cycle assessment of material handling systems for sustainable mining.

In this comprehensive LCA comparison study, main objectives are to investigate life cycle environmental impacts of off-highway mining trucks and belt conveyors in surface mining. The research methodology essentially entails determination of the functional unit as 20,000 tons/day coal production transported for 5 km distance. After the system boundary was selected as the entire life cycle of material handling systems including pre-manufacturing of steel parts and plastic components, manufacturing, transportation, and utilization data was compiled from equipment manufacturers and the Eco-invent database. Life cycle impact categories for both material-handling systems were identified and the developed model was implemented using SIMAPRO 7.3. Climate change and acidification were selected as major impact categories as they were considered to be major concerns in mining industry. Although manufacturing stage had a significant impact on all of the environmental parameters, utilization stage was the hotspot for the selected impact categories. The results of this study revealed that belt conveyors have a greater environmental burden in climate change impact category when compared to the trucks. On the other hand, trucks have a greater environmental burden in acidification impact category when compared to the belt conveyors. This study implied that technological improvement in fuel combustion and electricity generation is crucial for the improvement of environmental profiles of off-highway trucks and belt conveyors in the mining industry. The main novelty of this study is that it is the first initiative in applying LCA in the Turkish mining industry.

Isolated ectrodactyly in a newborn with Down syndrome.

Down syndrome (DS), trisomy 21, is the most common numerical chromosome abnormality among live born infants. Dysmorphic features, congenital malformations, cognitive impairment are major features. Musculoskeletal anomalies are associated with abnormal collagen function. Ectrodactyly is characterized by a deep median cleft of the hand and/or foot. Failure of apical ectodermal ridge while developing limbs leads to ectrodactyly. Here we report a patient diagnosed with DS and ectrodactyly which were split between the third and fourth fingers and there were 4 fingers on both hands. There was no additional musculoskeletal anomaly. Karyotype analysis revealed 47,XY,+21. To the best of our knowledge our patient is the first patient with DS and ectrodactyly. Pathogenesis ofmusculoskeletal anomalies in DS and ectrodactyly seems to be different which may be coincidental or not. In conclusion, patients with ectrodactyly should be evaluated for association with syndromes, and it should be kept in mind that patients with Down syndrome may have different organ anomaly from frequently seen anomalies.

Serum adiponectin in gestational diabetes and its relation to pregnancy outcome.

We investigated adiponectin levels in women with gestational diabetes mellitus (GDM) and normal glucose tolerance (NGT) at 24-28 gestational weeks. Fasting serum adiponectin, glucose and glycated haemoglobin (HbA1c) were determined in 88 pregnant women, 44 with GDM and 44 with NGT. Pre-pregnancy and current body mass indices (BMI), weight gain and pregnancy outcomes were investigated. Serum adiponectin was significantly reduced in GDM compared with the NGT group (p = 0.000). Adiponectin was negatively correlated with age (r = -0.419, p = 0.000); glucose (r = -0.263, p = 0.013); HbA1c (r = -0.274, p = 0.01); BMI (pre-pregnancy and current) (r = -0.317, p = 0.003 and r = -0.303, p = 0.004) and positively correlated with gestational age at delivery (r = 0.278, p = 0.009). The GDM group delivered significantly earlier than the NGT group (p = 0.001). Adverse pregnancy outcomes and abdominal delivery were higher in the GDM group (p = 0.000, p = 0.033, respectively), and adiponectin was significantly reduced in patients with adverse outcomes (p = 0.003) and abdominal delivery (p = 0.032). Adiponectin is reduced in patients with GDM. Association of adiponectin with adverse pregnancy outcomes remains to be elucidated.

Macrolides for the long-term management of asthma--a meta-analysis of randomized clinical trials.

BACKGROUND: Macrolide antibiotics, which have anti-inflammatory and immune modulatory effects, have been studied as adjuncts for the management of asthma. However, results have been contradictory and trials underpowered. We therefore sought to conduct a meta-analysis of randomized controlled trials (RCT). METHODS: All RCT of prolonged macrolides (3+ weeks) for asthma treatment, published up to January 2013 in MEDLINE, Scopus, CINAHL, Highwire, and The Cochrane Collaboration Library, were included. Fixed- or random-effects models were used to calculate pooled weighted or standard mean differences (WMD or SMD, respectively). RESULTS: A total of 12 studies were included for analysis. The pooled effect of macrolides on FEV1 (eight trials, 381 subjects) was not significant (SMD 0.05, 95% CI -0.14-0.25), but there was a significant increase in peak expiratory flow (four trials, 419 subjects; WMD 6.7, 95% CI 1.35-12.06). Pooled analysis also showed significant improvements in symptom scores (eight studies, 478 subjects; WMD -0.46, 95% CI -0.60 to -0.32), quality of life (five trials, 346 subjects; WMD 0.18, 95% CI 0.001-0.37), and airway hyper-reactivity (two trials, 131 subjects; SMD 1.99, 95% CI 0.46-3.52). Post hoc evaluation showed limited statistical power to detect significant differences in FEV1. CONCLUSIONS: Macrolide administration for asthma for three or more weeks was not associated with improvement in FEV1, but produced significant improvements in peak expiratory flow, symptoms, quality of life, and airway hyper-reactivity. Macrolides may therefore be beneficial as adjunct asthma therapy. Future trials, focusing on long-term safety and effectiveness, should use standardized outcomes and procedures.

Neonatal thrombo-embolism: risk factors, clinical features and outcome.

BACKGROUND: There are few data with respect to prothrombotic risk factors in neonates. AIM: To determine the associated risk factors, clinical features and outcome in newborn infants diagnosed with thrombo-embolism. METHODS: Case records of 25 infants (17 full-term and eight preterm) diagnosed with thrombo-embolism between January 2005 and April 2008 in a neonatal intensive care unit were reviewed. RESULTS: Of the 25 infants, 18 cases of venous (72%) and seven of arterial (28%) thrombo-embolism were recorded; in 18 it was associated with central catheterisation. The sites of thrombosis were portal vein (15), right renal vein (one), right femoral vein (one), multiple veins (one), right femoral artery (3), right iliac artery (2), bilateral iliac and renal arteries (one) and left renal artery (one). Hereditary thrombotic mutations were detected in three patients and anticardiolipin antibody was detected in one, none of whom had been catheterised. The remaining three non-catheterised patients had perinatal risk factors. Venous catheter placement was undertaken in 12 patients (48%), eleven of whom had: umbilical venous catheterisation for exchange transfusion (9), partial exchange transfusion (one) and venous access (one), and one had femoral venous catheterisation for an angiographic study. Arterial catheterisation was undertaken in seven patients (28%) (one infant had both umbilical venous and arterial catheters) for angiographic studies (5) and blood sampling (2). Of the 18 catheterised patients (72%), thrombophilic studies were undertaken in 13 and none had abnormal results. Additional perinatal risk factors were present in 18 patients (72%) and included prematurity (8), congenital heart disease (8), septicaemia (5), dehydration (3), respiratory distress syndrome (3), polycythemia (2), meconium aspiration syndrome (one), pneumonia (one), maternal diabetes (one), necrotising enterocolitis (one) and perinatal asphyxia (one). Although most of the patients recovered after anticoagulant or fibrinolytic therapy, the five (20%) deaths were associated mainly with underlying diseases. CONCLUSION: The most important risk factor for thrombo-embolic events in neonates is placement of central catheters and some perinatal prothrombotic conditions. Nevertheless, hereditary or acquired thrombophilic risk factors may also be a cause of thrombo-embolism.

Hyperparathyroidism secondary to maternal hypoparathyroidism and vitamin D deficiency: an uncommon cause of neonatal respiratory distress.

A 4-day-old neonate presented with respiratory distress owing to chest wall deformity associated with metabolic bone disease. He was found to have congenital hyperparathyroidism and his mother was suffering from post-surgical hypoparathyroidism and vitamin D deficiency. The patient was given calcium lactate and maintenance doses of vitamin D. The respiratory distress subsided, the parathyroid hormone level returned to normal and by 4 weeks of age bone mineral content had improved. Congenital hyperparathyroidism should be considered in neonates presenting with respiratory distress and chest deformity.

Apparent Lenz microphthalmia syndrome: a patient with unusual manifestations.

Lenz microphthalmia syndrome was first described by Lenz et al. in 1955 (9). The cardinal features of the syndrome are microphthalmia or anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, dental and genitourinary anomalies. Here we present a case of Lenz microphthalmia syndrome that shows the typical characteristics and, additionally, macrophallus, a broad chest with widely spaced nipples, wide gap between first and second toes, which are unusual manifestations in Lenz Microphthalmia Syndrome.

Increased asymmetric dimethylarginine levels in severe transient tachypnea of the newborn.

OBJECTIVE: Nitric oxide (NO) is synthesized by NO synthase (NOS), and asymmetric dimethylarginine (ADMA) is an endogenous inhibitor of NOS. We aimed to investigate l-arginine and ADMA levels in transient tachypnea of the newborn (TTN) and their relationship with systolic pulmonary artery pressure (PAP) and disease severity. STUDY DESIGN: Infants born at ⩾35 weeks gestational age with clinical signs and chest X-ray findings consistent with TTN were enrolled; controls were recruited at the same time. l-arginine and ADMA levels were measured at 12 to 24 h (first samples) and at 48 to 72 h (second samples). Systolic PAP was evaluated on the second day. Patients were divided according to the duration of tachypnea and designated as group A (duration ⩽72 h) and group B (duration >72 h). RESULTS: In the first samples, the ADMA levels were significantly higher in patients with TTN compared with controls (P<0.001). In the second samples, the ADMA levels were significantly higher in group B compared with that in group A (P=0.019). In group A patients, the second ADMA levels were significantly lower compared with that in the first samples (P<0.001), whereas the second ADMA levels remained unchanged compared with the first samples in group B. Systolic PAP values were significantly higher in group B compared with that in group A patients (P=0.033). CONCLUSION: Increased ADMA concentration may reduce NO synthesis, leading to increased PAP and thus longer duration of tachypnea.

Outcome of primary peritoneal drainage for perforated necrotizing enterocolitis: comparison between laparotomy and drainage.

Perforation of the gastrointestinal tract in neonates is still associated with high mortality rates. Laparotomy is usually required to treat gastrointestinal perforation, however peritoneal drainage under local anesthesia has been also described as an alternative mode of treatment. In our institute, laparotomy was the first choice for the management of gastrointestinal perforation in neonates until 1999. Because of the high mortality rates in this group of patients, our policy has since changed to the use of primary peritoneal drainage instead. The aim of this study is to compare the effectiveness of primary peritoneal drainage (PPD) and primary laparotomy (PL) procedures in the management of gastrointestinal perforation due to necrotizing enterocolitis in neonates. Between 1994 - 1998, ten babies with intestinal perforation underwent PL, whereas fifteen newborns with similar findings were treated with PPD between 1999 and 2003. Eight (80 %) of the patients died in the PL group prior to 1999. In the PPD group 8 (53.3 %) of babies required no further treatment and were discharged without any complications. Four (26.7 %) patients in this group needed laparotomy later, and three (75 %) of them survived. In conclusion, we believe that PPD is more effective than PL for the management of perforated necrotizing enterocolitis in neonates. Laparotomy can be used in particularly unresponsive cases after primary peritoneal drainage.

Serum zinc and copper levels in southeastern Turkish children with giardiasis or amebiasis.

Alterations of serum zinc (Zn) and copper (Cu) concentrations are commonly found in patients suffering from gastrointestinal infections and with hepatic, renal, cardiovascular, and malignant diseases. In this study, the serum Zn and Cu levels in 20 children with giardiasis and in 40 children with amebiasis were evaluated. The serum Zn levels showed a significant decrease when compared to controls (p<0.001). After metronidazole therapy, a significant increase in Zn levels was observed (p<0.001). There was no significant difference in serum Cu levels between patients and controls before therapy. Before therapy, the serum Cu/Zn ratio in children with either giardiasis or amebiasis was significantly higher than that of the control group. After therapy, the Cu/Zn ratio was found to be back to normal. There were no significant differences in serum Zn levels and Cu/Zn ratios between children with and without diarrhea and there was no significant difference in children with or without failure to thrive. We concluded that Zn deficiency and elevated Cu/Zn ratio could be acute-phase responses to parasitic infections in children with giardiasis or amebiasis and that a successful treatment of the primary disorder will lead to complete recovery. Further studies are in progress to confirm the benefit of Zn supplementation during the acute phase of the disease, particularly in zinc-deficient regions of the world, such as in the case of Turkey.

The outcome of non-carbapenem-based empirical antibacterial therapy and VRE colonisation in patients with hematological malignancies.

BACKGROUND: Febrile neutropenia (FN) is generally a complication of cancer chemotherapy. OBJECTIVES: We retrospectively evaluated the febrile neutropenia episodes and their outcomes with respect to modification rates of non-carbapenem-based empirical antibacterial therapy and vancomycin-resistant enterococcus (VRE) colonisation that caused to VRE bacteremia in patients with hematological malignancies. METHODS: All consecutive patients, who were older than 14 years of age and developed febrile neutropenia episodes due to hematological malignancies from September 2010 to November 2011 at the hematology department were included into the study. RESULTS: In total, 86 consecutive neutropenic patients and their 151 febrile episodes were evaluated. The mean MASCC prognostic index score was 18,72 ± 9,43. Among 86 patients, 28 patients experienced a total of 30 bacteremia episodes of bacterial origin. Modification rates of both, empirical monotherapy and combination therapies, were found similar, statistically (P = 0,840). CONCLUSIONS: Our results suggest that initiating of non-carbapenem based therapy does not provide high response rates in the treatment of febrile neutropenia attacks. Furthermore, non-carbapenem-based empirical therapy provides benefit in regard to cost-effectiveness and antimicrobial stewardship when local antibiotic resistance patterns of gram-negative bacteria are considered. Patients who are colonized with VRE are more likely to develop bacteremia with VRE strains as a result of invasive procedures and severe damage of mucosal barriers observed in this group of patients.

Fungal pathogens and primary antifungal prophylaxis in patients with hematological malignancies: one year experience.

BACKGROUND: Febrile neutropenia (FN) is generally a complication of cancer chemotherapy in patients with hematological malignancies. OBJECTIVE: To evaluate the febrile neutropenia episodes of hematological patients and their outcomes with respect to fungal pathogens, primary antifungal prophylaxis antifungal therapy. METHODS: All consecutive patients older than 14 years of age and who developed febrile neutropenia episodes from September 2010 to November 2011 were incorporated into this study. RESULTS: In total, we retrospectively evaluated 86 consecutive patients and their 148 neutropenic episodes. Of the 86 patients, 45 were male and the mean age was 47,65±15,06 years (range: 17-82 years). The mean MASCC score was 18,72 ± 9,43. Systemic antifungal drug was initiated to 17 patients with probable fungal infection and 12 patients with possible fungal infection. Of seven patients who received posaconazole prophylaxis, five were treated with systemic fungal infection due to possible fungal infection. CONCLUSIONS: It is obvious that more studies focused on primary prophylaxis are needed and primary or secondary antifungal prophylaxis should be evaluated in terms of provided benefits and disadvantages. Timely and appropriately initiated antifungal treatment is one of the most important factors for a good prognosis for recovery from a neutropenic phase.

Pregnancy and Crimean-Congo haemorrhagic fever.

Crimean-Congo Hemorrhagic fever (CCHF) is a potentially fatal viral infection with reported case fatality rates of 5-30%. Humans become infected through tick bites, by contact with a patient with CCHF during the acute phase of infection, or by contact with blood or tissues from viraemic livestock. In this first report in the literature, we present the characteristics of three pregnant women with CCHF infection and the outcome of their babies. Transmission of the CCHF infection could be either intrauterine or perinatal. In endemic regions, CCHF infection should be considered in the differential diagnosis of HELLP syndrome (haemolytic anaemia, elevated liver enzymes, low platelet count), and obstetricians should be familiar with the characteristics of CCHF infection. In the aetiology of necrotising enterocolitis, CCHF should be considered.

[Three-year follow-up clinical evaluation of the distribution of pedodontic dental services]. / Pedodonti hastalarina verilen dis hekimligi hizmetlerinin dagilimi konusunda üç yil süreli bir klinik degerlendirme.

Dental services given to 4-15 years old patients who referred to Dentistry Faculty of Gazi University, Department of Pedodontics between 1985-1988 academic years, were evaluated. Classifications were done according to age, gender and type of dental services provided and the importance of preventive dentistry was indicated as a result.