Hana Azhari | National University of Malaysia (original) (raw)
Publications in Journals by Hana Azhari
An omental cyst is a rare intra-abdominal mass in children which usually presents as progressive ... more An omental cyst is a rare intra-abdominal mass in children which usually presents as progressive abdominal distension; it may or may not be associated with pain. In some cases it can present itself as an acute abdomen if the cyst undergoes torsion or rupture. Ultrasound of the abdomen still plays an important first line radiological imaging followed by computed tomography to give better visualisation of the cyst. Complete excision is the mainstay of treatment which can be achieved by either open or minimally invasive surgery. We report a case of a huge omental cyst in a child and describe its laparoscopic approach to obtain a complete successful excision of the mass.
Papers by Hana Azhari
Medical research archives, 2016
Omental cyst is rare intra-abdominal mass in children which usually presents as progressive abdom... more Omental cyst is rare intra-abdominal mass in children which usually presents as progressive abdominal distension; it may or may not be associated with pain. In some cases it can present as acute abdomen if the cyst undergoes torsion or rupture. Ultrasound of the abdomen still plays an important first line radiological imaging followed by computed tomography to give better visualisation of the cyst. Complete excision is mainstay of treatment which can be achieved by either open or minimally invasive surgery. We report a case of huge omental cyst in a child and describe its laparoscopic approach to obtain complete successful excision of the mass.
VACTERL with hydrocephalus (VACTERL-H) is a subtype of VACTERL. Clinically, VACTERL-H is diagnose... more VACTERL with hydrocephalus (VACTERL-H) is a subtype of VACTERL. Clinically, VACTERL-H is diagnosed based on the presence of 3 or more congenital anomalies affecting the vertebrae, anus, heart, trachea, oesophagus, kidneys or limbs with hydrocephalus. VACTERL-H is an autosomal recessive or X-linked genetic disease and accounts for about 5-10% of Fanconi anaemia cases. We performed whole exome sequencing analysis of a 2-year-old boy with VACTERL-H and his unaffected parents. The exome data was analysed using Torrent Suite software and annotated using ANNOVAR. Polymorphisms with allele frequency > 0.01 were excluded and the remaining variants were filtered based on de novo mutations and autosomal recessive, X-linked and digenic inheritance traits. We found that the patient harboured heterozygous mutations in BRCA2 (ENST00000380152: c.C7052G, p.Ala2351Gly) and FANCA (ENST00000389301: c.C397T, p.His133Tyr), which were inherited from his father and mother, respectively. The candidate m...
VACTERL association is a rare genetic disorder involving at least three of the following congenit... more VACTERL association is a rare genetic disorder involving at least three of the following congenital malformations: vertebral defects (V), anal atresia (A), cardiac defects (C), trachea-oesophageal fistula with or without oesophageal atresia (TE), renal anomalies (R) and limb abnormalities (L). Until now, the aetiology of VACTERL association is unknown, particularly at the molecular level. Here, we performed whole exome sequencing (WES) of an infant with VACTERL association. The patient was delivered prematurely at 30 weeks and had 4/6 of the VACTERL malformations. Trio-WES analysis was performed using Torrent Suite and ANNOVAR. Polymorphisms with an allele frequency of >0.01 were excluded, and the remaining variants were filtered based on de novo mutations, autosomal recessive, X-linked and di-genic inheritance traits. In this patient, no homozygous, compound heterozygous or X-linked mutations was associated with VACTERL. However, we identified two heterozygous mutations; KIF27 (...
An omental cyst is a rare intra-abdominal mass in children which usually presents as progressive ... more An omental cyst is a rare intra-abdominal mass in children which usually presents as progressive abdominal distension; it may or may not be associated with pain. In some cases it can present itself as an acute abdomen if the cyst undergoes torsion or rupture. Ultrasound of the abdomen still plays an important first line radiological imaging followed by computed tomography to give better visualisation of the cyst. Complete excision is the mainstay of treatment which can be achieved by either open or minimally invasive surgery. We report a case of a huge omental cyst in a child and describe its laparoscopic approach to obtain a complete successful excision of the mass.
Medical research archives, 2016
Omental cyst is rare intra-abdominal mass in children which usually presents as progressive abdom... more Omental cyst is rare intra-abdominal mass in children which usually presents as progressive abdominal distension; it may or may not be associated with pain. In some cases it can present as acute abdomen if the cyst undergoes torsion or rupture. Ultrasound of the abdomen still plays an important first line radiological imaging followed by computed tomography to give better visualisation of the cyst. Complete excision is mainstay of treatment which can be achieved by either open or minimally invasive surgery. We report a case of huge omental cyst in a child and describe its laparoscopic approach to obtain complete successful excision of the mass.
VACTERL with hydrocephalus (VACTERL-H) is a subtype of VACTERL. Clinically, VACTERL-H is diagnose... more VACTERL with hydrocephalus (VACTERL-H) is a subtype of VACTERL. Clinically, VACTERL-H is diagnosed based on the presence of 3 or more congenital anomalies affecting the vertebrae, anus, heart, trachea, oesophagus, kidneys or limbs with hydrocephalus. VACTERL-H is an autosomal recessive or X-linked genetic disease and accounts for about 5-10% of Fanconi anaemia cases. We performed whole exome sequencing analysis of a 2-year-old boy with VACTERL-H and his unaffected parents. The exome data was analysed using Torrent Suite software and annotated using ANNOVAR. Polymorphisms with allele frequency > 0.01 were excluded and the remaining variants were filtered based on de novo mutations and autosomal recessive, X-linked and digenic inheritance traits. We found that the patient harboured heterozygous mutations in BRCA2 (ENST00000380152: c.C7052G, p.Ala2351Gly) and FANCA (ENST00000389301: c.C397T, p.His133Tyr), which were inherited from his father and mother, respectively. The candidate m...
VACTERL association is a rare genetic disorder involving at least three of the following congenit... more VACTERL association is a rare genetic disorder involving at least three of the following congenital malformations: vertebral defects (V), anal atresia (A), cardiac defects (C), trachea-oesophageal fistula with or without oesophageal atresia (TE), renal anomalies (R) and limb abnormalities (L). Until now, the aetiology of VACTERL association is unknown, particularly at the molecular level. Here, we performed whole exome sequencing (WES) of an infant with VACTERL association. The patient was delivered prematurely at 30 weeks and had 4/6 of the VACTERL malformations. Trio-WES analysis was performed using Torrent Suite and ANNOVAR. Polymorphisms with an allele frequency of >0.01 were excluded, and the remaining variants were filtered based on de novo mutations, autosomal recessive, X-linked and di-genic inheritance traits. In this patient, no homozygous, compound heterozygous or X-linked mutations was associated with VACTERL. However, we identified two heterozygous mutations; KIF27 (...