Effects of biological pre-digestion of sewage sludge processed by fast pyrolysis on bio-oil yield and biochar toxicity.

Studies on the evaluation of sewage sludge (SS) as a feedstock through thermochemical processes have gained momentum. Due to the complex structure of SS, it is necessary to determine SS treatment stage to which thermochemical processes will be added to the wastewater treatment plants and to configure the optimum process scheme. The pyrolysis process is an important process for resource recovery as bio-oil and biochar.

The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas.

Objectives: The aim of the present study was to investigate the presence of GJB2, GJB3, and GJB6 gene mutations in non-syndromic sensorineural hearing loss (NSHL) cases living in Sivas region, to provide appropriate genetic counseling for cases who were found to have mutation, and to contribute to decrease the frequency of mutant allele in the next generation and plan treatment and rehabilitation with early diagnosis.

Materials And Methods: The study included 53 unrelated cases that were diagnosed with congenital NSHL between June 2009 and March 2010. Multiplex ligation-dependent probe amplification method was used for genotyping of GJB2, GJB3, and GJB6 gene mutations.

Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.

Background: Familial Mediterranean fever (FMF), an autosomal recessive, autoinflammatory disease that is common in Arabs, Jews, Armenians and Turks, is caused by mutations in the MEFV gene, which encodes a protein called pyrin. The disease is characterised by recurrent fever, peritonitis, pleuritis, abdominal pain and arthralgia.

Objective: Determine the distributions of MEFV mutations and their relationship with clinical manifestations.

The type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study.

Objective: Chromosomal abnormalities are more common in the first trimester abortions. We aimed to investigate the types and prevalence of chromosomal abnormalities in couples with recurrent first trimester miscarriages in Sivas, Turkey.

Materials And Medhods: Three hundred couples (600 individuals) who had a story of recurrent abortion were included in the study.

Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis.

Primary glomerulopathies are those disorders that affect glomerular structure, function, or both in the absence of a multisystem disorder. We aimed to evaluate the frequency of MEFV gene mutation to show possible coexistence of FMF in patients diagnosed with biopsy-proven primary glomerulonephritis (GN). A total of 64 patients with biopsy-proven primary GN were included in the study.

Associations of fractalkine receptor (CX3CR1) and CCR5 gene variants with hypertension, diabetes and atherosclerosis in chronic renal failure patients undergoing hemodialysis.

Purpose: We aimed to investigate the associations of fractalkine receptor (CX3CR1) V249I, T280M and CCR5-59029 A/G gene polymorphisms in chronic renal failure (CRF) subjects undergoing hemodialysis and to evaluate possible associations of these polymorphisms with hypertension (HT), diabetes mellitus (DM) and atherosclerosis (AS).

Methods: A total of 225 CRF subjects undergoing hemodialysis and 201 healthy controls were enrolled in the study. CRF subjects were divided into three major subgroups according to comorbidities including HT (n = 127), DM (n = 65) and AS (n = 33).

Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion.

Background: 14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet.

Case Presentation: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplication and originated from maternal pericentric inversion of chromosome 14. Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypotonia, telecanthus and cardiac malformation.

A comparison of acoustic radiation force impulse imaging and scintigraphy in the functional evaluation of the major salivary glands.

Purpose: This study aimed to determine the efficacy of acoustic radiation force impulse (ARFI) imaging for the functional assessment of salivary glands by comparing ARFI with salivary gland scintigraphy.

Materials And Methods: We prospectively evaluated 60 parotid (P) glands and 60 submandibular (SM) glands of 30 patients using salivary gland scintigraphy and ARFI elastography. The average pixel uptake and the excretion fraction (EF) in the P and SM glands were determined scintigraphically.

The protective effect of MCP-1 -2518 A>G promoter polymorphism in Turkish chronic renal failure patients requiring long-term hemodialysis.

Objective: Monocyte chemoattractant protein-1 (MCP-1) plays a major role in the pathogenesis and progression of different types of human renal disease. Therefore, in this study, we aimed to investigate the effect of MCP-1 gene -2518 A>G promoter polymorphism in chronic renal failure (CRF) patients requiring long-term hemodialysis.

Methods: The study population consisted of 201 adult CRF patients requiring long-term hemodialysis and 194 healthy controls.

CCR2 polymorphism in chronic renal failure patients requiring long-term hemodialysis.

Objective: A number of chemokines and chemokine receptors are produced by intrinsic renal cells as well as by infiltrating cells during renal inflammation. The CCR2 chemokine receptor mediates leukocyte chemoattraction in the initiation and amplification phase of renal inflammation. The polymorphism, CCR2-V64I, changes valine 64 of CCR2 to isoleucine.

The role of the CCR2 gene polymorphism in abdominal aortic aneurysms.

Objective: Chronic inflammation play an important role on abdominal aortic aneurysms (AAA) formation. Chemokine receptor-2 (CCR2) is involved in regulation of the inflammatory response. However, relation between CCR2 polymorphism and AAA formation in human has not yet been investigated.

Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.

The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas-middle Anatolian city.

Dental findings in Cornelia de Lange syndrome.

Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain.

Adult height in Turkish patients with Turner syndrome without growth hormone treatment.

Spontaneous adult height (AH) in Turner syndrome (TS) varies among populations. Population-specific AH data is essential to assess the efficacy of growth-promoting therapies in TS. A multicenter study was performed to establish AH of nongrowth hormone (GH)-treated Turkish patients with TS.

Analysis of HumFABP2 as a polymorphic human genetic marker in the Turkish population.

Objective: To examine the allele frequencies of HumFABP2 locus in 155 individuals from different regions of Turkey.

Methods: The study was carried out in Cumhuriyet University Hospital, Sivas, Turkey, between March and June 2006. The allele and genotype frequencies for HumFABP2 were determined by polymerase chain reaction (PCR) using the manufacturer's recommended protocol, and using the commercially available Macherey-Nagel DNA isolation kit.

SRY and AZF gene variation in male infertility: a cytogenetic and molecular approach.

Aim: The aim of this study was to identify the genetic effects of Y chromosome and azoospermia factor (AZF) gene variation in men with infertility and to elucidate the molecular mechanism responsible for the identified point mutation.

Methods: Chromosome analysis was performed according to standard methods on lymphocyte cultured cells and genomic DNA was extracted from the peripheral blood. Three sets of primers were used encompassing the AZFb, AZFc and SRY14 gene regions.

Meckel-gruber syndrome associated with gastrointestinal tractus anomaly.

Meckel-Gruber syndrome (MGS) is rare autosomal recessive disorder characterized by occipital encephalocele, postaxial polydactyly and polycystic kidneys. A one-day-old girl was admitted to our clinic with occipital encephalocele, polydactyly, ulnar deviation of left hand and failure to thrive. Patient's parents were first-degree relatives.

Cyclopia-astomia-agnathia-holoprosencephaly association: a case report.

A female infant is described with cyclopia-astomia-agnathia-holoprosencephaly association. The authors discuss whether the use of salicylates in early pregnancy is implicated.

Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?

Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe mesoaxial syndactyly and synostosis in patients born to affected parents. The characteristic features of these severe cases are (1) complete syndactyly and synostosis of the third and fourth fingers; (2) severe bone reduction in the proximal phalanges of the same fingers; (3) hypoplasia of the thumbs and halluces; (4) aplasia/hypoplasia of the middle phalanges of the second and fifth fingers; and (5) complete or partial soft tissue syndactyly of the toes.

A new syndrome with cardiac malformation, cleft lip-palate, microcephaly and digital anomalies?

A family with cardiac malformation, cleft lip-palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal curvature of the 4th toes with syndactyly of the 2nd and 3rd toes has been described as having a new syndrome. While some members of the family had full signs of the syndrome, others had similar but fewer and less severe anomalies of the same structures. The presence of common findings in three generations, its variable expressivity and pleiotropism, and the non-consanguineous history in the parents suggest that the inheritance is autosomal dominant.

Larsen's syndrome with mixed-type hearing loss.

Mixed-type hearing loss is an extremely rare feature of Larsen's syndrome, a complex of symptoms characterized by multiple joint dislocation and "flat" faces. In this report, a patient with bilateral mixed-type hearing loss and Larsen's syndrome is presented.