Congenital left ventricular diverticulum associated with ASD, VSD, and epigastric hernia

Congenital left ventricular diverticulum is a rare cardiac malformation. Two categories of congenital ventricular diverticulum have been identified with regard to their localization: apical and non-apical. Apical diverticula are always associated with midline thoraco-abdominal defects and other heart malformations. Non-apical diverticula are always isolated defects. Diagnosis is established by imaging studies such as echocardiography, magnetic resonance imaging, or left ventricular angiography. Mode of treatment has to be individually tailored and depends on clinical presentation, accompanying abnormalities, and possible complications. We report a 10-month-old girl with left ventricular apical diverticulum, large atrial septal defect, two small muscular ventricular septal defects, and pulmonary hypertension, associated with epigastric hernia. This patient underwent total surgical repair for intra-cardiac defects as well as diverticular resection

Novel frameshift mutation in the KCNQ1 gene responsible for jervell and lange-nielsen syndrome

Objective(s): Jervell and Lange�Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Materials and Methods Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient and the family members were screened for mutations in KCNQ1 gene by linkage analysis and DNA sequencing. Results: DNA sequencing showed a c.15321534delG (p. A512Pfs*81) mutation in the KCNQ1 gene in homozygous form. The results of short tandem repeat (STR) markers showed that the disease in the family is linked to the KCNQ1 gene. The mutation was confirmed in the parents in heterozygous form. Conclusion: This is the first report of this variant in KCNQ1 gene in an Iranian family. The data of this study could be used for early diagnosis of the condition in the family and genetic counseling. © 2018, Mashhad University of Medical Sciences. All rights reserved

Novel frameshift mutation in the KCNQ1 gene responsible for jervell and lange-nielsen syndrome

Objective(s): Jervell and Lange�Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Materials and Methods Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient and the family members were screened for mutations in KCNQ1 gene by linkage analysis and DNA sequencing. Results: DNA sequencing showed a c.15321534delG (p. A512Pfs*81) mutation in the KCNQ1 gene in homozygous form. The results of short tandem repeat (STR) markers showed that the disease in the family is linked to the KCNQ1 gene. The mutation was confirmed in the parents in heterozygous form. Conclusion: This is the first report of this variant in KCNQ1 gene in an Iranian family. The data of this study could be used for early diagnosis of the condition in the family and genetic counseling. © 2018, Mashhad University of Medical Sciences. All rights reserved

Diagnostic value of clinical signs in neonatal sepsis

History and Objectives: Sepsis is one of the most serious diseases in neonates that is as a result of hemodynamic and metabolic disturbances following infection. The major criterion for its diagnosis is to cultivate the sterile fluids of the body including blood, cerebrospinal fluid and urine. Meanwhile, its result is prepared with delay. Until now, there has not been any report on the diagnostic value of clinical signs in Iran. Therefore, this study was performed on neonates referred to Shaheed Beheshti and Shabihkhani hospital during the years 1999-2000. Materials and Methods: The clinical trial and diagnostic strategy of this study was carried out on 120 neonates. In this respect, the suspected cases for sepsis were admitted and clinical signs including convulsion, fever, vomiting, anorexia, hypothermia, cyanosis, respiratory distress and hyporeflexia were evaluated. In addition, specimens of CSF, blood and urine were analyzed. Then, the diagnostic value of each one of these signs was determined. Results: The most common observed signs were hyporeflexia and anorexia. In 13 of them (10.8), there was a positive result for culture of each one of the sterile fluids. In addition, the predictive value specificity was the highest for convulsion and the most sensitive sign was anorexia. All of the cases (n=111) with positive culture were treated and cured using antibiotics and complementary treatments. Conclusion: The results showed diagnostic value of clinical signs in neonatal sepsis is limited. Furthermore, considering a recovery of 92.5 for cases, it could be concluded that positive culture is a golden standard for definite diagnosis of neonatal sepsis