• Journal of Audiology & Otology
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• v.23 no.1
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• pp.20-26
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• 2019

Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

• Korean Journal of Audiology
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• v.23 no.1
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• pp.20-26
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• 2019

Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

• Journal of Aquaculture
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• v.2 no.2
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• pp.53-90
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• 1989

Feeding proper level of ration matchable with the appetite of fish will enhance production and also prevent waste of food and its consequence, side effects such as pollution of culture medium. To pursue this goal, elaborate studies on dissolved oxygen concentrations- as the major force in inducing appetite and the growth outcome are necessary. The growth of common carp of 67, 200, 400, 600, and 800 gram size groups was studied at oxygen concentrations ranging from 2.0 to 6 mg/$\iota$ in relation to rations from 1 to as many percent of the initial body weight as could be consumed under constant temperature of $25^{\circ}C$. The results from the experiments are summarized as followings; 1. Appetite: The smaller fish exhibited higher degree of appetite than the bigger ones at the same oxygen concentrations. The bigger the fish the less tolerant it was to the lower oxygen thersholds, and the degree of tolerence decreased as ration level increased. 2. Growth : Growth rate (percent per day) increased - unless consumption was suppressed by low oxygen levels- as the ration was increased to maximum. In case of 67 g fish, it reached the highest point of $5.05\%$ / day at $7\%$ ration under 5.0 mg/$\iota$ of oxygen. In case of 200 g fish, the maximum growth rate of $3.75\%$/day appeared at the maximum ration of $6\%$ under 5.5 mg/$\iota$ of oxygen. In 400 g fish, the highest growth of $3.37\%$/day occurred at the maximum ration of $5\%$ and 6.0 mg/$\iota$ of oxygen. In 600 g fish, the highest growth rate of $2.82\%$ /day was at the maximum ration of $4\%$ under 5.5 mg/$\iota$ oxygen. In case of 800g fish, the highest growth rate of $1.95\%$/day was at maximum tested ration of $3\%$ under 5.0 mg/$\iota$ oxygen. 3. Food Conversion Efficiency: Food conversion efficiency ($\%$ dry feed converted into the fish tissue) first increased as the ration was increased, reached maximum at certain food level, then started decreasing with further increase in the ration. The maximum conversion efficiency stood at higher feeding rate for the smaller fish than the larger ones. In case of 67 g fish, the maximum food conversion efficiency was at $4\%$ ration within 3.0-4.0 mg/$\iota$ oxygen. In 200g fish, the maximum efficiency was at $3\%$ ration within 4.0-4.5 mg/$\iota$ oxygen. In 400g fish, the maximum efficiency was at $2\%$ ration within 4.0 - 4.5 mg/$\iota$ oxygen. In 600 and 800g fish, the maximum conversion efficiency shifted to the lowest ration ($1\%$) and lower oxygen ranges. 4. Behaviour: The fish within uncomfortably low oxygen levels exhibited suppressed appetite and movements and were observed to pass feces quicker and in larger quantity than the ones in normal condition; in untolerably low oxygen the fish were lethargic, vomited, and had their normal skin color changed into pale yellow or grey patches. All these processes contributed to reducing food conversion efficiency. On the other hand, the fish within relatively higher oxygen concentrations exhibited higher degree of movement and their food conversion tended to be depressed when compared with sister groups under corresponding size and ration within relatively low oxyen level. 5. Suitability of Oxygen Ranges to Rations: The oxygen level of 2.0- 2.5 mg/$\iota$ was adequate to sustain appetite at $1\%$ ration in all size groups. As the ration was increased higher oxygen was required to sustain the fish appetite and metabolic activity, particularly in larger fish. In 67g fish, the $2\%$ ration was well supported by 2.0-2.5 mg/$\iota$ range; as the ration increased to $5\%$, higher range of 3.0-4.0 mg/$\iota$ brought better appetite and growth; from 5 till $7\%$ (the last tested ration for 67 g fish) oxygen levels over 4.0 mg/$\iota$ could sustain appetite. In 200 g fish, the 2 and $3\%$ rations brought the best growth and conversion rates at 3.5-4.5 mg/$\iota$ oxygen level; from 3 till $6\%$ (the last tested ration at 200 g fish) oxyge groups over 4.5 mg/$\iota$ were matchable with animal's appetite. In 400, 600, and 800 g fish, all the rations above $2\%$ had to be generally supported with oxygen levels above 4.5 mg/$\iota$.