Background and purpose
Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi‐allelic ...mutations in NKX6‐2 were recently linked to spastic ataxia 8 with hypomyelinating leukodystrophy.
Methods
Using a combination of homozygosity mapping, exome sequencing, and detailed clinical and neuroimaging assessment a series of new NKX6‐2 mutations in a multicentre setting is described. Then, all reported NKX6‐2 mutations and those identified in this study were combined and an in‐depth analysis of NKX6‐2‐related disease spectrum was provided.
Results
Eleven new cases from eight families of different ethnic backgrounds carrying compound heterozygous and homozygous pathogenic variants in NKX6‐2 were identified, evidencing a high NKX6‐2 mutation burden in the hypomyelinating leukodystrophy disease spectrum. Our data reveal a phenotype spectrum with neonatal onset, global psychomotor delay and worse prognosis at the severe end and a childhood onset with mainly motor phenotype at the milder end. The phenotypic and neuroimaging expression in NKX6‐2 is described and it is shown that phenotypes with epilepsy in the absence of overt hypomyelination and diffuse hypomyelination without seizures can occur.
Conclusions
NKX6‐2 mutations should be considered in patients with autosomal recessive, very early onset of nystagmus, cerebellar ataxia with hypotonia that rapidly progresses to spasticity, particularly when associated with neuroimaging signs of hypomyelination. Therefore, it is recommended that NXK6‐2 should be included in hypomyelinating leukodystrophy and spastic ataxia diagnostic panels.
Two hundred and fourteen patients who had a cough illness lasting at least 2 weeks were studied to investigate Bordetella pertussis as a cause of prolonged cough in adolescents and adults. Medical ...history and nasopharyngeal swab specimens for culture and polymerase chain reaction (PCR) were obtained at presentation. Three (1·4%) patients were B. pertussis culture-positive; 15 (7%) were B. pertussis PCR-positive (including the culture-positive patients) and 11 (5·1%) were Bordetella spp. PCR-positive. Symptom combinations were significantly high both in patients with pertussis and patients with indeterminate results (P < 0·05). We conclude that B. pertussis should be considered among differential diagnoses of prolonged cough in adolescents and adults and PCR and culture should be used to detect these cases and facilitate public health response.
In this study, the sera collected from a variety of mammalian species (ass-mules, cat, cattle, dog, horse, human and sheep) in 10 representative provinces of Turkey, were surveyed for the presence of ...neutralizing antibodies to West Nile virus (WNV). Overall, 1 of 40 (2·5%) ass-mules, 4 of 100 (4%) cattle, 43 of 114 (37·7%) dogs, 35 of 259 (13·5%) horses, 18 of 88 (20·4%) humans and 1 of 100 (1%) sheep, tested positive for WNV-neutralizing antibodies. The results indicate that a wide range of mammals are exposed to a West Nile-related virus and this could contribute to the long-term survival of this virus in the absence of overt disease.
Background we retrospectively assessed mortality and morbidity rates of very low birth weight infants followed in Adnan Menderes University Neonatal Intensive Care Unit (NICU). Methods 73 newborns ...with birth weight lower than 1500 g and gestational age under 32 weeks followed between January 2009 and December 2011 were included. Demographic characteristics, perinatal events, postnatal complications, duration of mechanical ventilation, mortality rates, length of hospital stay were investigated. Results Mean gestational age was 28.1 ±2.4 (23–32) weeks, mean birth weight was 1116.8±247.6 (600–1500) g, mean mother age was 27.1± 6.2 (17–41). Median duration of ventilation was 173.4±182.2 (0–912) hours. Twenty % of the cases died; with median gestational age of 26.3±3.3 (23–32) weeks and median birth weight of 886±310 (600–1450) g. Sixty-four % of the babies had mechanical ventilation support. Incidence of PDA, NEC, ROP were 19%, 13.6%, 19% respectively. Nineteen % of the infants had intracranial hemorrhage. Six infants had neurological abnormalities at discharge. Abstract 801 Table 1Characteristics of the infants % male 55 vaginal delivery 38 Antenatal Steroid 30 Mechanical Ventilation 64 Patent Ductus Arteriosus 19 Necrotizing Enterocolitis 13,6 Retinopathy of prematurity 19 late neonatal sepsis 23,7 intracranial hemorrhage 19 Conclusion Overall survival rates of our unit were found to be similar with previously reported rates from our country. Gestational age and birth weight correlated with survival and morbidity rates. Assessing outcomes of our NICU will provide us not only a new approach on understanding and management of these infants but also bring a perspective on predicting the prognosis and informing parents.
Background and Aims Jaundice is one of the most common problems in newborn period. İnfants at risk for severe hyperbilirubinemia should be identified and closely monitored in order to avoid ...kernicterus. This study was performed to identify the etiology and sociodemographic characteristics of newborns with severe indirect hyperbilirubinemia who had exchange transfusion. Methods The study sample included all infants who were undergone exchange transfusion at Adnan Menderes University NICU from January 2000 through December 2010. Hospital records were reviewed. Blood groups, direct Coombs test, whole blood count, peripheric blood smear, CRP, reticulocyte count, total, direct bilirubine levels, Tandem mass, G6PD and pyruvate kinase levels, urinalysis and urine culture, reducing substance in urine were investigated. Results Sixty-five of the patients were male, 26.5% preterm. Mean gestational age was 39.3±1.4 for term infants, 35±1.1 weeks for preterms. Mean serum total bilirubin level was 25±6.3 mg/dl. Twenty- four % of the patients had Rh incompatibility, %24.5 had ABO incompatibility, 6.1% had both Rh and ABO incompatibility,%4.1 G-6-PD deficient, 12.2% had early breast milk jaundice, % 12.2 had sepsis, 6.1% had hemolysis of unknown etiology. In five babies no etiology was discovered. Conclusions Most of the infants had Rh or ABO incompatibility, who were vaginally delivered, discharged within 24 hours of birth and exclusively breastfed. Since mean age at admission was 3.4±3.7 days, serum total bilirubin levels should be measured before discharge and discharge should be delayed in high risk babies.
New macromonomers containing dialdehyde functionalities placed at the middle or at the end of the chains were synthesized in two reaction steps. First, using ring-opening polymerization (ROP) of ...ε-caprolactone (CL) or atom transfer radical polymerization (ATRP) of styrene (St) in the presence of proper initiators provided well-defined low molecular weight polymers with dibromobenzene moieties. In the second step, using Suzuki couplings of these dibromobenzene functions with 4-formylphenyl boronic acid, macromonomers having 4,4‘-dicarbaldehyde terphenyl moieties were obtained. Poly(phenylenevinylene)s (PPVs), with lateral subtituents PSt or PCL chains respectively, were synthesized by following a Wittig polycondensation in combination with bis(triphenylphosphonium) salts in the presence of potassium tert-butoxide. The resulting PPVs were soluble in common organic solvents at room temperature as were the starting macromonomers. All of the starting and intermediate polymers and the final PPVs were characterized by using 1H and 13C NMR, IR, GPC, DSC, and TGA measurements. Optical properties of the polymers were followed by UV and fluorescence spectroscopy. The studied PPVs show a blue or green fluorescence in solution.
Al‐Owain M, Colak D, Al‐Bakheet A, Al‐Hashmi N, Shuaib T, l‐Hemidan A, Aldhalaan H, Rahbeeni Z, Al‐Sayed M, Al‐Younes B, Ozand PT, Kaya N. Novel mutation in GLRB in a large family with hereditary ...hyperekplexia.
Hereditary hyperekplexia (HH) is a disorder of the inhibitory glycinergic neurotransmitter system. Mutations in five genes have been reported to cause the disease. However, only single mutation in GLRB, the gene encoding beta‐subunit of the glycine receptor, in a singleton patient with HH has been found to date. In this study, 13 patients with HH were identified through neurology and genetic clinics. Formal clinical examinations, linkage analysis, homozygosity mapping, in‐mutation screening of GLRB and in silico functional analyses were carried out. A novel mutation in GLRB among nine patients was identified. This c.596 T>G perturbation results in the change of the highly conserved methionine at position 177 to arginine. Besides the classical HH phenotype, seven patients had esotropia and few of them had behavioral problems. This study presents a large family with HH as a result of homozygous mutation in GLRB and expands the clinical spectrum of HH to include eye misalignment disorder. Moreover, the report of these familial cases supports the previous evidence in a single patient of an autosomal recessive inheritance of HH because of defects in GLRB.
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