- Email: [email protected]
Oxidative stress: Role in maintenance of telomere integrity
j o u r n a l o f t h e a n a t o m i c a l s o c i e t y o f i n d i a 6 4 S ( 2 0 1 5 ) S37–S62
transverse process & sacrum. Incomplete sacralization shows well-defined joint line between transverse process & sacrum. Case Report: During routine osteological studies in the departmental bone library, 4 lumbar vertebrae with complete and incomplete sacralization were found. There were two showing complete fusion of bilateral transverse processes of fifth lumbar vertebra with sacrum. There was one showing fusion of body of fifth lumbar vertebra with sacrum and other not showing fusion of body of fifth lumbar vertebra with sacrum. Other two were showing unilateral sacralization with fusion of only one-sided transverse process of fifth lumbar vertebra with sacrum. Vertebra is bisegmental in development with contribution from caudal half of one sclerotome and cranial half of succeeding sclerotome. Cranial shift of border between fifth lumbar vertebra and sacrum results in sacralization. In sacralization, fifth lumbar nerve roots may be compressed resulting in pain along the distribution of L4-L5 nerve roots. It can also lead to disc degeneration or disc herniation in the disc immediately above the transition vertebra and ligamentous strain. Knowledge about this abnormity is important while reporting X-rays, CT scans, and MRI scans. During surgical procedures at lumbosacral region and while making a differential diagnosis for low backache patients, a clinician should be aware of this abnormality.
S61
individual are fused together to a variable extent. It is a rare form of birth defect affecting one in every 100,000 live births. Hereby, we are presenting such a case. Method: The baby was procured from the Department of Obstetrics and Gynecology of AMCH. All external features were carefully documented and X-ray of the whole body was taken. Then the baby was dissected and all findings were noted down. Results: The baby was borne by a 35-year-old mother at 32 weeks of pregnancy. There was no history of exposure to any known teratogen or consanguinity. Externally, the two legs were fused and external genitals were not formed. X-ray showed, though the lower limbs were fused, that all long bones of lower extremity were formed separately. Conclusion: Sirenomelia is a rare as well as interesting congenital anomaly. Though various theories were put forward in an attempt to explain the etiology of its occurrence, none of them are satisfactory. Acknowledgement: This case is a part of the project “Pattern of Congenital Anomalies in North East India” sponsored by ICMR.
90. Oxidative stress: Role in maintenance of telomere integrity 88. High origin of profunda femoris artery: A case report Bora Darshana ∗ , Sarma Mukul, Lahon Jyotirmayee Department of Anatomy and Clinical Genetics, Assam Medical College, Dibrugarh, Assam, India Objective: The arterial pattern of the lower limb is one of the systems that display many variations in the adult human body. The profunda femoris artery (deep femoral artery) is a large branch that arises laterally from the femoral artery about 3.5 cm distal to the inguinal ligament. At first lateral to the femoral artery, it spirals posterior to this and the femoral vein to reach the medial side of the femur. Method: The case was found during routine dissection of cadavers in the Department of Anatomy at Assam Medical College on a formalin-fixed adult male cadaver. Results: The profunda femoris artery arose from the femoral artery at least about 2 cm distal to the inguinal ligament on both the sides. Conclusion: The possible variation of this artery is important for investigation as well as reconstructive surgery.
89. Sirenomelia: A case report Goswami Dibyajyoti ∗ , Kusre Giriraj, Das Hirak, Lahon Jyotirmayee Department of Anatomy and Clinical Genetics, Assam Medical College and Hospital, Dibrugarh, Assam, India Objective: Sirenomelia, also known as mermaid baby, is a fatal congenital malformation where the legs of the affected
Mishra Swetasmita ∗ , Pathak Vinay, Singh Gurvinder, Singh Neeta, Malhotra Neena, Kumar Rajeev, Dada Rima Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, India Objective: Telomeres are multifunctional nucleoprotein domains with hexanucleotide tandem repeat (5 TTAGGG3 ), which cap chromosome ends. They prevent end-to-end fusion and degradation of linear ends of chromosomes and thereby maintain chromosomal stability and genomic integrity. Numerous studies have addressed the detailed description of telomere in various diseases but the telomere length in the sperm and its role in fertilization are not known. These nucleoprotein repeat sequences are located in the sperm nuclear periphery bound to histones and more susceptible to oxidative injury. This study was planned to measure telomere length in sperm DNA & its correlation with oxidative stress. Methods: The study included infertile men (n = 88) and controls (n = 35). The average telomere length from the sperm DNA was measured using a quantitative Real Time PCR (Q-PCR) based assay. Oxidative stress was measured by chemiluminiscence assay. Results: The average telomere length in infertile men was 0.609 ± 0.15 and in control 0.789 ± 0.060. Oxidative stress in infertile was 66.61 ± 28.32 RLU/sec/million sperm and in control 14.04 ± 10.67. When correlated to oxidative stress, in normal range of oxidative stress (0–22), the average telomere length in cases was 0.663 ± 0.14, in mild oxidative stress (22–35), it was 0.684 ± 0.12, and in high oxidative stress, average telomere length was 0.595 ± 0.15. Conclusion: For detailed molecular evaluation of telomere structure, its correlation with oxidative stress would aid in elucidating the cause of accelerated telomere length alteration.
S62
j o u r n a l o f t h e a n a t o m i c a l s o c i e t y o f i n d i a 6 4 S ( 2 0 1 5 ) S37–S62
Moderate oxidative stress results in lengthening of telomere length, but higher oxidative stress results in shorter telomeres. Thus, moderate oxidative stress is beneficial in telomere length maintenance and thus advocates that indiscriminate use of antioxidants should be avoided.
91. Accessory flexor carpi ulnaris with persistent median artery in left upper limb – A case report S. Sulochana ∗ , S. Verma, H.Y. Suma Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India Case Report: Accessory Flexor carpi ulnaris is a very rare anomaly with a few reported cases previously. During routine dissection of a male cadaver, we came across an anomalous presentation of flexor carpi ulnaris (FCU) with the absence of Palmaris longus in the left upper limb. FCU presented with two separate bellies and tendons, one inserting into pisiform and the other into hook of hamate and flexor retinaculum. Both the muscles were supplied by ulnar nerve. The other variations are the persistence of median artery and the absence of superficial palmar arch. Radial artery showed a high origin at the level of humeral epicondyles, and the ulnar artery trifurcated as three terminal branches: the common interosseous artery, the median artery and the continuation of ulnar artery. The persistent median artery pierced the median nerve from posterior to anterior and accompanied it to the palm deep to flexor retinaculum to supply the lateral two and a half fingers and did not anastomose with the ulnar artery to form the superficial palmar arch. Awareness of variations of forearm musculature and the vascular pattern of upper limb is clinically important in angiographic and reconstructive hand surgical procedures. We report this case for its rare and unique presentation.
92. Screening of MYOC, NTF4, WDR36, OPTN, SIX1/SIX6 and CYP1B1 Genes In Primary Open Angle Glaucoma (POAG) K. Mohanty 1 , D. Kumar 2 , T. Dada 1 , R. Dada 2 1 2
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, India; Department of Anatomy, AIIMS, New Delhi 110029, India
E-mail address: rima [email protected] (K. Mohanty). Objective: Glaucoma is the second largest cause of blindness worldwide. This study was planned to do mutation spectrum analysis in the candidate genes & whole mtDNA in North Indian POAG patients. Method: The study included 75 POAG patients & 60 controls. MYOC, NTF4, OPTN, WDR36, SIX1, SIX6 and CYP1B1 genes were
amplified by PCR. Whole mitochondrial genome was screened in all the cases and controls. Results: Two pathogenic nucleotide changes A1394G and A1394G corresponding to amino acid changes p.R116G and p.R116E, respectively, were observed in SIX6 gene. One pathogenic change G35798A in CYP1B1 gene resulting in amino acid change p.E229K was also found. Two non-pathogenic nucleotide changes G887A and G804T corresponding to amino acid change p.R76K & p.Q48H, respectively, in MYOC were found. One nucleotide change in intron 6 of WDR36 & no change in NTF4, OPTN and SIX1 genes were observed. None of the controls presented these changes. A total of 156 (patients) & 79 (controls) mtDNA nucleotide variations were found in this study. Four pathogenic changes (2 novel & 2 reported) were found. Complex I had highest number of non-synonymous changes. Conclusion: 30 (40%) POAG patients had pathogenic nucleotide changes either in SIX6 or CYP1B1 genes. Thus, SIX6 and CYP1B1 genes may be involved in POAG in our cohort of patients. No change in NTF4, OPTN and SIX1 & one intronic change in WDR36 were found suggesting noninvolvement of these genes in POAG pathogenesis. Mitochondrial nucleotide changes may lead to oxidative stress in POAG. We recommend SIX6 and CYP1B1 for candidate gene screening.
93. Partial bridging of posterior arch of atlas – A case report B.S. Prakash 1 , K. Padmalatha 2 , Mahalakshmi Chitragar 3 1
Professor & HOD, Hassan Institute of Medical Sciences, Hassan 573201, India; 2 ESIC PG & Medical College, India; 3 PG, Anatomy, Hassan Institute of Medical Sciences, Hassan 573201, India Introduction: Craniovertebral junction is a complex anatomy with biomechanics. Atlas according Greek warrior means globe on his head, which is ring. Case Report: The posterior arch has a sulcus for 3rd part vertebral artery, posterior atlanto-occipital membrane, and periosteal sheath is reinforced by transverse & retroglenoid ligament. Sulcus may get converted into foramen by ossification of ligament. During routine osteology classes for I MBBS students at Hassan Institute of Medical sciences, we came across an atlas which showed incomplete osseous bridge on both sides, more on the left side. The other name for the osseous bridging is foramen arcuale/atlantoideumposterius/sagitale/Kimmerele anomaly/pons ponticulus. The cause may be ossification or may be remnant of proatlas-occipital vertebra. Bridging may compress vertebral artery and ossification of ligament. Thorough knowledge of segmental & regional anatomy is necessary during surgery & Lateral mass screw fixation. Clinical & morphological significance will be dealt in detail.
transverse process & sacrum. Incomplete sacralization shows well-defined joint line between transverse process & sacrum. Case Report: During routine osteological studies in the departmental bone library, 4 lumbar vertebrae with complete and incomplete sacralization were found. There were two showing complete fusion of bilateral transverse processes of fifth lumbar vertebra with sacrum. There was one showing fusion of body of fifth lumbar vertebra with sacrum and other not showing fusion of body of fifth lumbar vertebra with sacrum. Other two were showing unilateral sacralization with fusion of only one-sided transverse process of fifth lumbar vertebra with sacrum. Vertebra is bisegmental in development with contribution from caudal half of one sclerotome and cranial half of succeeding sclerotome. Cranial shift of border between fifth lumbar vertebra and sacrum results in sacralization. In sacralization, fifth lumbar nerve roots may be compressed resulting in pain along the distribution of L4-L5 nerve roots. It can also lead to disc degeneration or disc herniation in the disc immediately above the transition vertebra and ligamentous strain. Knowledge about this abnormity is important while reporting X-rays, CT scans, and MRI scans. During surgical procedures at lumbosacral region and while making a differential diagnosis for low backache patients, a clinician should be aware of this abnormality.
S61
individual are fused together to a variable extent. It is a rare form of birth defect affecting one in every 100,000 live births. Hereby, we are presenting such a case. Method: The baby was procured from the Department of Obstetrics and Gynecology of AMCH. All external features were carefully documented and X-ray of the whole body was taken. Then the baby was dissected and all findings were noted down. Results: The baby was borne by a 35-year-old mother at 32 weeks of pregnancy. There was no history of exposure to any known teratogen or consanguinity. Externally, the two legs were fused and external genitals were not formed. X-ray showed, though the lower limbs were fused, that all long bones of lower extremity were formed separately. Conclusion: Sirenomelia is a rare as well as interesting congenital anomaly. Though various theories were put forward in an attempt to explain the etiology of its occurrence, none of them are satisfactory. Acknowledgement: This case is a part of the project “Pattern of Congenital Anomalies in North East India” sponsored by ICMR.
90. Oxidative stress: Role in maintenance of telomere integrity 88. High origin of profunda femoris artery: A case report Bora Darshana ∗ , Sarma Mukul, Lahon Jyotirmayee Department of Anatomy and Clinical Genetics, Assam Medical College, Dibrugarh, Assam, India Objective: The arterial pattern of the lower limb is one of the systems that display many variations in the adult human body. The profunda femoris artery (deep femoral artery) is a large branch that arises laterally from the femoral artery about 3.5 cm distal to the inguinal ligament. At first lateral to the femoral artery, it spirals posterior to this and the femoral vein to reach the medial side of the femur. Method: The case was found during routine dissection of cadavers in the Department of Anatomy at Assam Medical College on a formalin-fixed adult male cadaver. Results: The profunda femoris artery arose from the femoral artery at least about 2 cm distal to the inguinal ligament on both the sides. Conclusion: The possible variation of this artery is important for investigation as well as reconstructive surgery.
89. Sirenomelia: A case report Goswami Dibyajyoti ∗ , Kusre Giriraj, Das Hirak, Lahon Jyotirmayee Department of Anatomy and Clinical Genetics, Assam Medical College and Hospital, Dibrugarh, Assam, India Objective: Sirenomelia, also known as mermaid baby, is a fatal congenital malformation where the legs of the affected
Mishra Swetasmita ∗ , Pathak Vinay, Singh Gurvinder, Singh Neeta, Malhotra Neena, Kumar Rajeev, Dada Rima Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, India Objective: Telomeres are multifunctional nucleoprotein domains with hexanucleotide tandem repeat (5 TTAGGG3 ), which cap chromosome ends. They prevent end-to-end fusion and degradation of linear ends of chromosomes and thereby maintain chromosomal stability and genomic integrity. Numerous studies have addressed the detailed description of telomere in various diseases but the telomere length in the sperm and its role in fertilization are not known. These nucleoprotein repeat sequences are located in the sperm nuclear periphery bound to histones and more susceptible to oxidative injury. This study was planned to measure telomere length in sperm DNA & its correlation with oxidative stress. Methods: The study included infertile men (n = 88) and controls (n = 35). The average telomere length from the sperm DNA was measured using a quantitative Real Time PCR (Q-PCR) based assay. Oxidative stress was measured by chemiluminiscence assay. Results: The average telomere length in infertile men was 0.609 ± 0.15 and in control 0.789 ± 0.060. Oxidative stress in infertile was 66.61 ± 28.32 RLU/sec/million sperm and in control 14.04 ± 10.67. When correlated to oxidative stress, in normal range of oxidative stress (0–22), the average telomere length in cases was 0.663 ± 0.14, in mild oxidative stress (22–35), it was 0.684 ± 0.12, and in high oxidative stress, average telomere length was 0.595 ± 0.15. Conclusion: For detailed molecular evaluation of telomere structure, its correlation with oxidative stress would aid in elucidating the cause of accelerated telomere length alteration.
S62
j o u r n a l o f t h e a n a t o m i c a l s o c i e t y o f i n d i a 6 4 S ( 2 0 1 5 ) S37–S62
Moderate oxidative stress results in lengthening of telomere length, but higher oxidative stress results in shorter telomeres. Thus, moderate oxidative stress is beneficial in telomere length maintenance and thus advocates that indiscriminate use of antioxidants should be avoided.
91. Accessory flexor carpi ulnaris with persistent median artery in left upper limb – A case report S. Sulochana ∗ , S. Verma, H.Y. Suma Jawaharlal Institute of Postgraduate Medical Education and Research, Pondicherry, India Case Report: Accessory Flexor carpi ulnaris is a very rare anomaly with a few reported cases previously. During routine dissection of a male cadaver, we came across an anomalous presentation of flexor carpi ulnaris (FCU) with the absence of Palmaris longus in the left upper limb. FCU presented with two separate bellies and tendons, one inserting into pisiform and the other into hook of hamate and flexor retinaculum. Both the muscles were supplied by ulnar nerve. The other variations are the persistence of median artery and the absence of superficial palmar arch. Radial artery showed a high origin at the level of humeral epicondyles, and the ulnar artery trifurcated as three terminal branches: the common interosseous artery, the median artery and the continuation of ulnar artery. The persistent median artery pierced the median nerve from posterior to anterior and accompanied it to the palm deep to flexor retinaculum to supply the lateral two and a half fingers and did not anastomose with the ulnar artery to form the superficial palmar arch. Awareness of variations of forearm musculature and the vascular pattern of upper limb is clinically important in angiographic and reconstructive hand surgical procedures. We report this case for its rare and unique presentation.
92. Screening of MYOC, NTF4, WDR36, OPTN, SIX1/SIX6 and CYP1B1 Genes In Primary Open Angle Glaucoma (POAG) K. Mohanty 1 , D. Kumar 2 , T. Dada 1 , R. Dada 2 1 2
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, India; Department of Anatomy, AIIMS, New Delhi 110029, India
E-mail address: rima [email protected] (K. Mohanty). Objective: Glaucoma is the second largest cause of blindness worldwide. This study was planned to do mutation spectrum analysis in the candidate genes & whole mtDNA in North Indian POAG patients. Method: The study included 75 POAG patients & 60 controls. MYOC, NTF4, OPTN, WDR36, SIX1, SIX6 and CYP1B1 genes were
amplified by PCR. Whole mitochondrial genome was screened in all the cases and controls. Results: Two pathogenic nucleotide changes A1394G and A1394G corresponding to amino acid changes p.R116G and p.R116E, respectively, were observed in SIX6 gene. One pathogenic change G35798A in CYP1B1 gene resulting in amino acid change p.E229K was also found. Two non-pathogenic nucleotide changes G887A and G804T corresponding to amino acid change p.R76K & p.Q48H, respectively, in MYOC were found. One nucleotide change in intron 6 of WDR36 & no change in NTF4, OPTN and SIX1 genes were observed. None of the controls presented these changes. A total of 156 (patients) & 79 (controls) mtDNA nucleotide variations were found in this study. Four pathogenic changes (2 novel & 2 reported) were found. Complex I had highest number of non-synonymous changes. Conclusion: 30 (40%) POAG patients had pathogenic nucleotide changes either in SIX6 or CYP1B1 genes. Thus, SIX6 and CYP1B1 genes may be involved in POAG in our cohort of patients. No change in NTF4, OPTN and SIX1 & one intronic change in WDR36 were found suggesting noninvolvement of these genes in POAG pathogenesis. Mitochondrial nucleotide changes may lead to oxidative stress in POAG. We recommend SIX6 and CYP1B1 for candidate gene screening.
93. Partial bridging of posterior arch of atlas – A case report B.S. Prakash 1 , K. Padmalatha 2 , Mahalakshmi Chitragar 3 1
Professor & HOD, Hassan Institute of Medical Sciences, Hassan 573201, India; 2 ESIC PG & Medical College, India; 3 PG, Anatomy, Hassan Institute of Medical Sciences, Hassan 573201, India Introduction: Craniovertebral junction is a complex anatomy with biomechanics. Atlas according Greek warrior means globe on his head, which is ring. Case Report: The posterior arch has a sulcus for 3rd part vertebral artery, posterior atlanto-occipital membrane, and periosteal sheath is reinforced by transverse & retroglenoid ligament. Sulcus may get converted into foramen by ossification of ligament. During routine osteology classes for I MBBS students at Hassan Institute of Medical sciences, we came across an atlas which showed incomplete osseous bridge on both sides, more on the left side. The other name for the osseous bridging is foramen arcuale/atlantoideumposterius/sagitale/Kimmerele anomaly/pons ponticulus. The cause may be ossification or may be remnant of proatlas-occipital vertebra. Bridging may compress vertebral artery and ossification of ligament. Thorough knowledge of segmental & regional anatomy is necessary during surgery & Lateral mass screw fixation. Clinical & morphological significance will be dealt in detail.