First case of New Delhi metallo ß-lactamase-1 (NDM-1)-producing Burkholderia cepacia complex in Iran.

The Burkholderia cepacia complex (Bcc) is a gram-negative bacillus, which is intrinsically resistant to several used antibiotics, and is now recognized as a group of opportunistic pathogens in Cystic Fibrosis patients. Here, for the first time, we report the case of a patient with New Delhi metallo ß-lactamase (NDM)-positive Bcc lower respiratory tract infection in Iran. The patient was a 57-year-old male admitted to our hospital due to breathlessness, with a history of pulmonary thromboembolism and hypertension. On day 14, the patient underwent bronchoscopy and a bronchoalveolar lavage (BAL) specimen was taken. BAL culture grew Bcc. The drug resistance analysis showed positive NDM resistance, with susceptibility to only quinolones, therefore, levofloxacin was prescribed to the patient. He was discharged from the hospital on the 20th day, 4 days after the initiation of levofloxacin therapy, and died at home on the fifth day after discharge. This is the first report of a lung infection caused by an extensively drug-resistant NDM-positive Bcc strain in Iran.

The Relationship between VDR Gene Polymorphisms Bsm1 and Apa1 with Breast Cancer Risk.

Background In addition to its multifaceted physiological functions, vitamin D is recognized for its protective role against cancer. To manifest its effects, vitamin D engages with the vitamin D receptor ( VDR ) gene responsible for its encoding. Investigations have unveiled that polymorphisms within the VDR gene exert influence over the expression and/or functionality of the VDR protein. Notably, certain VDR gene polymorphisms have emerged as particularly pertinent in the context of tumorigenesis, including Fok1 (rs2228570), Bsm1 (rs1544410), Taq1 (rs771236), and Apa1 (rs7975232). This study aims to scrutinize the correlation between the Bsm1 and Apa1 polymorphisms and the susceptibility to breast cancer development. Materials and Methods In this study, 50 patients suffering from breast cancer with less than 6 months breast cancer diagnosis and 50 healthy control individuals have been chosen. Restriction fragment length polymorphism polymerase chain reaction was used to determine the genotype of polymorphisms. Results The results of the statistical analysis showed that among the studied polymorphisms, there was no correlation with the development of breast cancer. Conclusion Studies on various cancers have produced inconsistent results regarding vitamin D's role in the development and progression of cancer. Therefore, further research is necessary to determine vitamin D's role in cancer development and progression.

Outbreak of colistin and carbapenem-resistant Klebsiella pneumoniae ST16 co-producing NDM-1 and OXA-48 isolates in an Iranian hospital.

BACKGROUND: Colistin and carbapenem-resistant Klebsiella pneumoniae (Col-CRKP) represent a significant and constantly growing threat to global public health. We report here an outbreak of Col-CRKP infections during the fifth wave of COVID-19 pandemic. METHODS: The outbreak occurred in an intensive care unit with 22 beds at a teaching university hospital, Isfahan, Iran. We collected eight Col-CRKP strains from seven patients and characterized these strains for their antimicrobial susceptibility, determination of hypermucoviscous phenotype, capsular serotyping, molecular detection of virulence and resistance genes. Clonal relatedness of the isolates was performed using MLST. RESULTS: The COVID-19 patients were aged 24-75 years with at least 50% pulmonary involvement and were admitted to the intensive care unit. They all had superinfection caused by Col-CRKP, and poor responses to antibiotic treatment and died. With the exception of one isolate that belonged to the ST11, all seven representative Col-CRKP strains belonged to the ST16. Of these eight isolates, one ST16 isolate carried the iucA and ybtS genes was identified as serotype K20 hypervirulent Col-CRKP. The blaSHV and blaNDM-1 genes were the most prevalent resistance genes, followed by blaOXA-48 and blaCTX-M-15 and blaTEM genes. Mobilized colistin-resistance genes were not detected in the isolates. CONCLUSIONS: The continual emergence of ST16 Col-CRKP strains is a major threat to public health worldwide due to multidrug-resistant and highly transmissible characteristics. It seems that the potential dissemination of these clones highlights the importance of appropriate monitoring and strict infection control measures to prevent the spread of resistant bacteria in hospitals.

Preparation of sisal fiber/polyaniline/bio-surfactant rhamnolipid-layered double hydroxide nanocomposite for water decolorization: kinetic, equilibrium, and thermodynamic studies.

Sisal fiber is a potent economical biomaterial for designing composites because of its low density, high specific strength, no toxic effects, and renewability. The present study utilized sisal fiber as a starting material and subjected it to modification to produce a sisal fiber/polyaniline/bio-surfactant rhamnolipid-layered double hydroxide nanocomposite material denoted as SF@PANI@LDH@RL. The composite was evaluated for its efficacy in removing reactive orange 16 (RO16) and methylene blue (MB) from aqueous solutions. The synthesized adsorbent was characterized by FTIR, XRD, and SEM-EDS techniques; these analyses indicated the successful modification of the sisal fiber. The primary factors, including contact time, adsorbent dosage, dye concentration, temperature, and pH, were optimized for achieving the most excellent adsorption efficiency. On the one hand, methylene blue removal is enhanced in the basic solution (pH = 10). On the other hand, reactive orange 16 adsorption was favored in the acidic solution (pH = 3). The highest adsorption capacities for methylene blue and reactive orange 16 were 24.813 and 23.981 mg/g at 318 K, respectively. The Temkin isotherm model, which proves the adsorption procedure of methylene blue and reactive orange 16 could be regarded as a chemisorption procedure, supplies the most suitable explanation for the adsorption of methylene blue (R2 = 0.983) and reactive orange 16 (R2 = 0.996). Furthermore, Elovich is the best-fitting kinetic model for both dyes (R2 = 0.986 for MB and R2 = 0.987 for RO16). The recommended SF@PANI@LDH@RL adsorbent was reused six consecutive times and showed stable adsorption performance. The results demonstrate that SF@PANI@LDH@RL is a perfect adsorbent for eliminating cationic and anionic organic dyes from aqueous media.

Pyrolyzed magnetic NiO/carbon-derived nanocomposite from a hierarchical nickel-based metal-organic framework with ultrahigh adsorption capacity.

Herein, a simple one-pot solvothermal approach is used to create magnetic porous carbon nanocomposites which obtained from a nickel-based metal-organic framework (Ni-MOF) and examined for their ability to uptake methyl orange (MO) dye. Derived carbons with exceptional porosity and magnetic properties were created during the different pyrolysis temperatures of Ni-MOF (700, 800, and 900 °C) under a nitrogen atmosphere. The black powders were given the names CDM-700, CDM-800, and CDM-900 after they were obtained. A variety of analysis methods, including FESEM, EDS, XRD, FTIR, VSM, and N2 adsorption-desorption were used to characterize as-prepared powders. Furthermore, adsorbent dosage, contact time, pH variation, and initial dye concentration effects was investigated. The maximum adsorption capacities were 307.38, 5976.35, 4992.39, and 2636.54 mg/g for Ni-MOF, CDM-700, CDM-800, and CDM-900, respectively, which show the ultrahigh capacity of the resulted nanocomposites compared to newest materials. The results showed that not only the crystallinity turned but also the specific surface area was increased about four times after pyrolyzing. The results showed that the maximum adsorption capacity of MO dye for CDM-700 was obtained at adsorbent dosage of 0.083 g/L, contact time of 60 min, feed pH of 3, and temperature of 45 °C. The Langmuir model has the best match and suggests the adsorption process as a single layer. According to the results of reaction kinetic studies using well-known models, the pseudo-second-order model (R2 = 0.9989) displayed high agreement with the experimental data. The synthesized nanocomposite is introduced as a promising superadsorbent for eliminating dyes from contaminated water due to strong recycling performance up to the fifth cycle.

Modelling impacts of climate change and anthropogenic activities on inflows and sediment loads of wetlands: case study of the Anzali wetland.

Understanding the effects of climate change and anthropogenic activities on the hydrogeomorpholgical parameters in wetlands ecosystems is vital for designing effective environmental protection and control protocols for these natural capitals. This study develops methodological approach to model the streamflow and sediment inputs to wetlands under the combined effects of climate and land use / land cover (LULC) changes using the Soil and Water Assessment Tool (SWAT). The precipitation and temperature data from General Circulation Models (GCMs) for different Shared Socio-economic Pathway (SSP) scenarios (i.e., SSP1-2.6, SSP2-4.5, and SSP5-8.5) are downscaled and bias-corrected with Euclidean distance method and quantile delta mapping (QDM) for the case of the Anzali wetland watershed (AWW) in Iran. The Land Change Modeler (LCM) is adopted to project the future LULC at the AWW. The results indicate that the precipitation and air temperature across the AWW will decrease and increase, respectively, under the SSP1-2.6, SSP2-4.5, and SSP5-8.5 scenarios. Streamflow and sediment loads will reduce under the sole influence of SSP2-4.5 and SSP5-8.5 climate scenarios. An increase in sediment load and inflow was observed under the combined effects of climate and LULC changes, this is mainly due to the projected increased deforestation and urbanization across the AWW. The findings suggest that the densely vegetated regions, mainly located in the zones with steep slope, significantly prevents large sediment load and high streamflow input to the AWW. Under the combined effects of the climate and LULC changes, by 2100, the projected total sediment input to the wetland will reach 22.66, 20.83, and 19.93 million tons under SSP1-2.6, SSP2-4.5, and SSP5-8.5 scenarios, respectively. The results highlight that without any robust environmental interventions, the large sediment inputs will significantly degrade the Anzali wetland ecosystem and partly-fill the wetland basin, resulting in resigning the wetland from the Montreux record list and the Ramsar Convention on Wetlands of International Importance.

Secondary bacterial infection caused by ST16 NDM-1 and OXA-48-producing colistin and carbapenem-resistant Klebsiella pneumoniae treated with tigecycline in a pregnant woman with COVID-19.

During the COVID-19 pandemic, the rapid emergence of carbapenem and colistin-resistant Klebsiella pneumoniae has resulted in an alarming situation worldwide. We aimed to describe secondary infections and antimicrobial use, in a pregnant woman admitted to hospital with COVID-19. A 28-year-old pregnant woman was admitted to the hospital due to COVID-19. According to the clinical conditions, the patient was transferred to the ICU on the second day. She was empirically treated with ampicillin and clindamycin. Mechanical ventilation through an endotracheal tube was started on the 10th day. During her hospitalization in the ICU, she was infected with ESBL-producing K. pneumonia, Enterobacter spp and carbapenemase-producing colistin-resistant Klebsiella pneumoniae isolates. Finally, the patient was treated with tigecycline monotherapy that was associated with ventilator-associated pneumonia clearance. Bacterial co-infection is relatively infrequent in hospitalized patients with COVID-19. Treatment of infections caused by carbapenemase-producing colistin-resistant K. pneumoniae isolates is challenging, with limited antimicrobials available in Iran. In order to prevent the spread of extensively drug-resistant bacteria, infection control programs must be implemented more seriously.

Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.

BACKGROUND: Limb-girdle muscular dystrophy (LGMD) is a non-syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes next-generation sequencing (NGS) a necessary approach for the proper diagnosis of LGMD. METHODS: In this article, 26 Iranian patients with LGMD criteria were diagnosed with disease variants in the genes encoding calpain3, dysferlin, sarcoglycans and Laminin α-2. Patients were referred to the hospital with variable distribution of muscle wasting and progressive weakness in the body. The symptoms along with biochemical and EMG tests were suggestive of LGMD; thus the genomic DNA of patients were investigated by whole-exome sequencing including flanking intronic regions. The target genes were explored for the disease-causing variants. Moreover, the consequence of the amino acid alterations on proteins' secondary structure and function was investigated for a better understanding of the pathogenicity of variants. Variants were sorted based on the genomic region, type and clinical significance. RESULTS: In a comprehensive investigation of previous clinical records, 6 variations were determined as novel, including c.1354-2 A > T and c.3169_3172dupCGGC in DYSF, c.568 G > T in SGCD, c.7243 C > T, c.8662_8663 insT and c. 4397G > C in LAMA2. Some of the detected variants were located in functional domains and/or near to the post-translational modification sites, altering or removing highly conserved regions of amino acid sequence.

Association of Clinical Features with Spike Glycoprotein Mutations in Iranian COVID-19 Patients.

BACKGROUND: Mutations in spike glycoprotein, a critical protein of SARS-CoV-2, could directly impact pathogenicity and virulence. The D614G mutation, a non-synonymous mutation at position 614 of the spike glycoprotein, is a predominant variant circulating worldwide. This study investigated the occurrence of mutations in the crucial zone of the spike gene and the association of clinical symptoms with spike mutations in isolated viruses from Iranian patients infected with SARS-CoV-2 during the second and third waves of the COVID-19 epidemic in Isfahan, the third-largest city in Iran. METHODS: The extracted RNA from 60 nasopharyngeal samples of COVID-19 patients were subjected to cDNA synthesis and RT-PCR (in three overlapping fragments). Each patient's reverse transcriptase polymerase chain reaction (RT-PCR) products were assembled and sequenced. Information and clinical features of all sixty patients were collected, summarized, and analyzed using the GENMOD procedure of SAS 9.4. RESULTS: Analysis of 60 assembled sequences identified nine nonsynonymous mutations. The D614G mutation has the highest frequency among the amino acid changes. In our study, in 31 patients (51.66%), D614G mutation was determined. For all the studied symptoms, no significant relationship was observed with the incidence of D614G mutation. CONCLUSIONS: D614G, a common mutation among several of the variants of SARS-CoV-2, had the highest frequency among the studied sequences and its frequency increased significantly in the samples of the third wave compared to the samples of the second wave of the disease.

Sustainable green roofs: a comprehensive review of influential factors.

Green roofs have gained much attention as a modern roofing surface due to their potential to deliver many environmental and social benefits. Studies have indicated that different GR designs deliver different ecosystem services, and there are important factors that affect GR performance. This article reviewed significant factors that influence GR performance and sustainability. Substrate and drainage layer material choice significantly affects stormwater retention potential, leachate quality, plant survival, and determines GR environmental footprints. Subsequently, type of plants, their form, and kinds used on GRs impact GR ecosystem function. Leaf area is the most studied trait due to its influence on the cooling potential and energy performance. In order to achieve a sustainable GR, it is essential to select the type of plants that have a high survival rate. Perennial herbs, particularly forbs and grass as dominant groups, are heat and drought tolerant, which make them suitable in GR experiment. Furthermore, selecting a suitable irrigation system is as important as two other factors for having a sustainable GR. Irrigation is essential for plant survival, and due to the current pressure on valuable water sources, it is important to select a sustainable irrigation system. This review presents three sustainable irrigation methods: (i) employing alternative water sources such as rainwater, greywater, and atmospheric water; (ii) smart irrigation and monitoring; and (iii) using adaptive materials and additives that improve GR water use. This review sheds new insights on the design of high-performance, sustainable GRs and provides guidance for the legislation of sustainable GR.

Modeling of novel processes for eliminating sidestreams impacts on full-scale sewage treatment plant using GPS-X7.

The novel process consisted of two steps was established by combining all sidestreams lines (supernatant gravity thickener, underflow mechanical thickener, and centrate), treating them together away from the mainstream treatment plant, and returning treated sidestreams effluents to the plant outfall instead of plant head. The two steps novelty treatment combined degradation, nitrification, and dilution processes. To treat combined sidestreams, a novel pilot extended nutrient moving bed biofilm reactor was developed. The effects of sidestream elimination on a full-scale anaerobic/anoxic/oxic system were simulated using GPS-X7. The statistical results of R values greater than 0.8 and NMSE values near zero proved the calibrated model's validation. The novel system successfully removed 98, 93, 100, 85, 98, 100, and 98% of BOD, COD, NH4, NO3, TSS, H2S, and PO4-P from sidestreams, respectively. Furthermore, the simulation results showed that eliminating sidestreams has reduced volumes of full-scale A2/O facilities, controlled hydraulic and pollutants shocks, and minimized cost and energy. The novel process proved successful in treating combined sidestreams and eliminating their impacts on the A/O2 system.

Dysregulation of RNA interference components in COVID-19 patients.

OBJECTIVE: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the novel coronavirus causing severe respiratory illness (COVID-19). This virus was initially identified in Wuhan city, a populated area of the Hubei province in China, and still remains one of the major global health challenges. RNA interference (RNAi) is a mechanism of post-transcriptional gene silencing that plays a crucial role in innate viral defense mechanisms by inhibiting the virus replication as well as expression of various viral proteins. Dicer, Drosha, Ago2, and DGCR8 are essential components of the RNAi system, which is supposed to be dysregulated in COVID-19 patients. This study aimed to assess the expression level of the mentioned mRNAs in COVID-19patients compared to healthy individuals. RESULTS: Our findings demonstrated that the expression of Dicer, Drosha, and Ago2 was statistically altered in COVID-19 patients compared to healthy subjects. Ultimately, the RNA interference mechanism as a crucial antiviral defense system was suggested to be dysregulated in COVID-19 patients.

Removal of tetracycline with aluminum boride carbide and boehmite particles decorated biochar derived from algae.

For the first time, using aluminum-boron electrodes in the electrocoagulation cell for harvesting the cultivated Chlorella microalgae and then performing a hydrothermal process of producing biofuel, mesoporous biochar was produced with an average pore diameter of 11.62 nm, a high specific surface area of 126.4 m2/g and a total pore volume of 0.55 cm3/g. Based on the chemical characterization, aluminum boride carbide (Al3B48C2) and boehmite [Al2(OOH)2] were identified in the biochar composition so that 7.17 wt% Al and 16.67 wt% B were measured on the biochar surface by EDS analysis. As the by-product of hydrothermal converting microalgae Chlorella into biofuel, the residual biochar was innovatively used to separate tetracycline from aqueous solutions. The nonlinear form of the Freundlich model fitted theadsorption equilibrium data well with the least error function value explained by the intraparticle diffusion model. The maximum adsorption capacity of 25.94 mg/g was obtained through endothermic physical adsorption.

Genetic Analysis of MECP2 Gene in Iranian Patients with Rett Syndrome.

OBJECTIVES: Rett syndrome is an X linked dominant neurodevelopmental disorder which almost exclusively affects females. The syndrome is usually caused by mutations in MECP2 gene, which is a nuclear protein that selectively binds CpG dinucleotides in the genome. MATERIALS & METHODS: To provide further insights into the distribution of mutations in MECP2 gene, we investigated 24 females with clinical characters of Rett syndrome referred to Alzahra University Hospital in Isfahan, Iran during 2015-2017. We sequenced the entire MECP2 coding region and splice sites for detection of point mutations in this gene. Freely available programs including JALVIEW, SIFT, and PolyPhen were used to find out the damaging effects of unknown mutations. RESULTS: Direct sequencing revealed MECP2 mutations in 13 of the 24 patients. We identified in 13 patients, 10 different mutations in MECP2 gene. Three of these mutations have not been reported elsewhere and are most likely pathogenic. CONCLUSION: Defects in MECP2 gene play an important role in pathogenesis of Rett syndrome. Mutations in MECP2 gene can be found in the majority of Iranian RTT patients. We failed to identify mutations in MECP2 gene in 46% of our patients. For these patients, further molecular analysis might be necessary.

A critical review on the application of the National Sanitation Foundation Water Quality Index.

Many studies have employed the National Sanitation Foundation Water Quality Index (NSFWQI) with non-original rather than originally defined parameters of the model, particularly when incorporating fecal coliform (FC), total solids, and total phosphates as inputs. For this reason, this study aimed to perform a critical review on the application of the NSFWQI to explore the amount of change that can be expected when users employed non-original parameters (such as orthophosphate and total dissolved solids/total suspended solids instead of total phosphorous and total solids, respectively), or different units (FC based on the maximum probable number (FC-MPN) rather than the colony forming unit (FC-CPU)). To demonstrate the influence of originally defined inputs on NSFWQI results, various scenarios were investigated. These scenarios were generated using different possible inputs to the NSFWQI, altering the FC, total solids, and total phosphorous parameters obtained from the monitoring stations of the Sefidroud River in Iran. Considerable differences were observed in the NSFWQI values when using orthophosphate and total suspended solids, instead of the originally defined data (i.e., total phosphorous and total solids), in the model (first scenario). In this case, the number of stations with "good" water quality increased from one to seven when compared with the first scenario results. In addition, unlike the results of the first scenario, none of the stations were classified as class IV (i.e., "bad" water quality status). However, the results of the implemented scenarios presented a more favorable water quality status than those obtained using the first scenario (except the second scenario which included FC-MPN rather than FC-CFU). Using total dissolved solids instead of total solids and FC-MPN rather than FC-CPU, resulted in fewer changes. In both cases, the average of the NSFWQI values in the river classed all stations as "medium" and "bad" water quality for the wet and dry seasons, respectively. Proper application of NSFWQI is important to provide high quality results for evaluation of water bodies, particularly when incorporating total solids and total phosphorous as inputs.

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

Biallelic mutations of the gene encoding diphthamide biosynthesis 1 (DPH1, NM_001383.3) cause developmental delay, dysmorphic features, sparse hair, and short stature (MIM *603527). Only two missense DPH1 mutations have been reported to date. Here, we describe a consanguineous family with two siblings both showing developmental delay, agenesis of the corpus callosum, dysmorphic facial features, sparse hair, brachycephaly, and short stature. By wholeexome sequencing, a homozygous frameshift mutation in DPH1 (c.1227delG, p.[Ala411Argfs*91]) was identified, which is likely responsible for the familial condition. The unique clinical features of the affected siblings are cleft palate and absent renal findings.

Factors influencing sperm retrieval following testicular sperm extraction in nonobstructive azoospermia patients.

OBJECTIVE: Azoospermia owing to testicular disorders is the most severe manifestation of male infertility. The main concern for patients with nonobstructive azoospermia (NOA) is the probability of successful sperm retrieval following testicular sperm extraction (TESE). Therefore, the goal of this study was to determine predictive factors correlated with sperm retrieval. METHODS: We assessed the testicular histopathological patterns, the choice of TESE surgical procedure, hormone levels, and chromosomal abnormalities in patients with NOA (n=170). The histopathology specimens were analyzed based on the histopathological patterns of hypospermatogenesis, maturation arrest, and Sertoli cell-only syndrome. RESULTS: The mean rate of sperm retrieval was 48.8%. The rate of sperm retrieval was significantly higher in the hypospermatogenesis group than in the other groups (p<0.001). There was a positive correlation between micro-TESE (vs. conventional TESE) and the sperm retrieval rate (odds ratio, 8.077; p<0.01). A logistic regression model demonstrated that high levels of follicle-stimulating hormone (FSH) and small testicular volume were significantly associated with lower chances of successful sperm retrieval. CONCLUSION: Some parameters, including testicular histopathology patterns, FSH levels, testicular volume, and method of TESE surgery, may be able to predict the chances of obtaining spermatozoa in patients with NOA. However, despite the efficiency of some predictive models, the hope of retrieving any functioning spermatozoa may be sufficient to disregard predictive factors of the success of intracytoplasmic sperm injection in these patients.

Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents.

The 22q11.2 locus is known to harbor a high risk for structural variation caused by non-allelic homologous recombination, resulting in deletions and duplications. Here, we describe the first family with one sibling carrying the 22q11 deletion and the other carrying the reciprocal duplication. FISH and SNP array analysis of the parents show a maternal origin for both deletion and duplication, without indications of balanced deletions/duplications or mosaicism. We hypothesize that germline mosaicism in the mother underlies the deletion and duplication, which would implicate a high recurrence risk for her offspring.

A New Approach to Modeling Operational Conditions for Mitigating Fouling in Membrane Bioreactor.

Modeling and optimization tools play a key role in membrane fouling control in membrane bioreactor (MBR) systems by delineating the more important variables involved. In this study, the influence of sludge retention time (SRT), aeration rate and filtration mode on hollow fiber membrane fouling was investigated. Using the response surface methodology (RSM) for modeling and central composite rotatable design (CCRD) for design of experiments, mathematical models were developed for fouling rate and protein (P1, P2) and carbohydrate (C1, C2) concentrations in two layers of fouling. Results showed that sludge retention time (SRT) was the most important variable in most models followed by aeration rate. Aeration showed a more effective role on the models of the rinsed layer (P1, C1) than backwashed layer (P2, C2). Backwashed layer had more influence on total fouling rate than rinsed layer. The optimal point for MBR operation was: SRT = 30 days, aeration = 10.7 L/min, relaxation interval = 8.8 minutes, and relaxation duration = 41.8 seconds.

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication.

Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation probe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize rearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed with a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6 Mb duplication is reported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature.