Study of C677T Methylene Tetrahydrofolate Reductase Gene Polymorphism as a Risk Factor for Neural Tube Defects.

Introduction: Various genetic and environmental factors contribute to the development of neural tube defects (NTDs) which are a group of neurulation defects resulting from failure of closure of embryonic neural tube. Among genetic factors is polymorphism in methylene tetrahydrofolate reductase (MTHFR) gene, giving rise to a gene variant or mutant. However, in most studies directed at finding an association between MTHFR variants and NTD, there is no clear evidence of a cause-and-effect relationship.

rCBV- and ADC-based Grading of Meningiomas With Glimpse Into Emerging Molecular Diagnostics.

Introduction: This study was conducted to grade meningiomas based on relative Cerebral Blood Volume (rCBV) and Apparent Diffusion Coefficient (ADC) to help surgeons plan the approach and extent of operation as well as decide on the need of any adjuvant radio/chemo therapy. The current and evolving genomic, proteomic, and spectroscopic technologies are also discussed which can supplement the current radiologic methods and procedures in grading meningiomas.

Methods: A total of 35 patients with meningioma prospectively underwent basic MR sequences (T1W, T2W, T2W/FLAIR) in axial, sagittal and coronal planes followed by Diffusion Weighted (DW) imaging having b value of 1000 (minimum ADC values used for analysis).

Diagnosis of neonatal sepsis using 16S rRNA polymerase chain reaction.

The gold standard for detecting bacterial sepsis is blood culture. However, the sensitivity of blood culture is low and the results take 48-72 h. Molecular assays for the detection of bacterial DNA permit early detection of a bacterial cause as the turnaround time is 6-8 h.

Hepatic visceral larva migrans.

Visceral larva migrans (VLM) is a systemic manifestation of migration of second stage larvae of nematodes through the tissue of human viscera. It is not uncommon but is underdiagnosed in developing countries. The liver is the most common organ to be involved due to its portal venous blood supply.

Thirteen Years' Experience of Diaphragmatic Injury in Children from the Post Graduate Institute of Medical Sciences (PGIMS), Rohtak, India.

Background: Diaphragmatic hernia is migration of abdominal viscera into the thoracic cavity through a defect in the diaphragm. In children, it is mostly congenital; traumatic diaphragmatic hernia being less common. This study aimed to review our experience with traumatic diaphragmatic rupture (TDR) and to identify the clinical findings and diagnostic modality that may help in early diagnosis and prompt therapy.

Macrodystrophia lipomatosa involving multiple nerves.

Macrodystrophia lipomatosa (MDL), a rare congenital disorder, is considered by some to be a localized form of Proteus syndrome. The implication of the PTEN (phosphatase and tensin homolog deleted on chromosome 10) gene in both strengthens this belief. We present a case who had MDL in multiple nerve territories--all on the same side of the body--with hypertrophy of mainly fibroadipose tissue throughout their distribution, thus pointing to a form of localized hemihypertrophy; both hemihypertrophy and lipomatous tumors are components of Proteus syndrome.

Conjoined twins in a spontaneous trichorionic quadruplet pregnancy: a case report.

Background: Multifetal pregnancies are high-risk pregnancies. Coexistence of conjoint twins with multifetal pregnancies further increases the risk factor, which is already considerably high with multiple births. Assisted reproductive techniques lead to an increase in multifetal pregnancies, especially monozygotic pregnancies, which in turn lead to an increase in the rate of conjoined twins.

Neural tube defects: review of experimental evidence on stem cell therapy and newer treatment options.

The failure of closure of the neural tube during development leads to malformations called neural tube defects (NTDs). The most common neural malformations in humans include anencephaly, encephalocele, exencephaly, craniorachischisis spina bifida with or without myelomeningocele, lipomyeloschisis, lipomyelomeningocele, meningocele and myelocystocele. Current preventive strategies are mainly based on pharmacologic/folic acid supplementation.

Sequence analysis of 16S rRNA gene inRhinosporidium seeberi shows similarity to plant chloroplast DNA.

Unlabelled: Identity of causative agent of rhinosporidiosis (Rhinosporidium seeberi) has been controversial since the disease was described in 1900. Extensive sequence alignments and phylogenetic analyses of 16S rRNA gene detected recently by us in R. seeberi , revealed 99% similarity with 16S rDNA in chloroplasts of flowering plants.

Thoracic kidney associated with congenital diaphragmatic hernia.

We report three cases of ectopic thoracic (or superior ectopic) kidney; one in a neonate and two in 6-month-old children, associated with congenital diaphragmatic hernia. In all cases the diagnosis was made during surgery and confirmed by intravenous pyelography, sonography and magnetic resonance imaging in the postoperative period. Because of the rarity of this condition we report these cases together with a wide review of the published reports.

Meniscal ossicle.

Meniscal ossicle, or bone within the substance of meniscus, is a rare entity and commonly confused with a loose body both clinically and radiologically. MRI is the modality that can definitely diagnose meniscal ossicle and avoid unnecessary diagnostic arthroscopy. Here we report one such case diagnosed using MRI; this patient is doing well without surgery one year after diagnosis.

Lipoma of Guyon's canal causing ulnar neuropathy.

Lipoma is a benign soft tissue tumor which rarely causes neuropathy. In closed compartments such as Guyon's canal, even small volume loss can lead to compression of nerve. Hence in such areas, even innocuous tumors such as lipomas can cause neuropathy and warrant surgery.

Complement activation via alternative pathway is critical in the development of laser-induced choroidal neovascularization: role of factor B and factor H.

The objective of this study was to explore the role of classical, lectin, and alternative pathways of complement activation in laser-induced choroidal neovascularization (CNV). The classical and alternative pathways were blocked in C57BL/6 mice by small interfering RNAs (siRNA) directed against C1q and factor B, respectively. C4(-/-) mice developed CNV similar to their wild-type controls and inhibition of C1q by siRNA had no effect on the development of CNV.

Detection of 16S rRNA gene in round bodies isolated from polyps of rhinosporidiosis.

Polyps of rhinosporidiosis contain microscopic round bodies, believed to be causative agents of the disease. The source and identity of these round bodies has been debated ever since the first case was described in the year 1900. Most patients have a history of exposure to pond water.