Right-Sided Ectopic Intrathoracic Kidney Associated With Symptomatic Bochdalek Hernia in an Adult Indian Female: Case Report and Review of Literature.

Bochdalek hernia is an inherited posterior lateral defect in the diaphragm that allows the abdominal organs to herniate into the thoracic cavity. In addition to being the most prevalent variety of congenital diaphragmatic hernia (CDH), it is also the type that is observed on the left hemithorax the majority of the time. Ectopic kidney is an uncommon condition, and the occurrence of ectopic intrathoracic kidney is even more uncommon, accounting for only a few of all the cases of renal ectopias. The occurrence of intrathoracic kidney associated with Bochdalek hernia is infrequent among adult individuals and is typically an incidental finding. A 52-year-old obese female patient presented to the pulmonology outpatient unit and reported experiencing the symptoms of coughing, wheezing, and difficulty in breathing since three years. A chest radiograph revealed an elevated dome of the diaphragm on the right side. A computed tomography (CT) of the chest revealed a defect in the posterior aspect of the right hemi-diaphragm with herniation of the right kidney and retroperitoneal fat into the right hemi-thorax. CT urography showed normal size and enhancement of the intrathoracic kidney with prompt excretion of contrast into the pelvicalyceal system. With regard to the small size of the hernia and considering the absence of complications on CT urography, a conservative treatment was proposed to the patient. The patient was followed up every year. There was no occurrence of renal complications during the follow-up period. When evaluating patients with 'elevated hemi-diaphragm' or thoracic 'mass', it is essential to check for the presence of intrathoracic kidney to avoid undesirable surgical procedures and image-guided biopsies.

The Role of Magnetic Resonance Imaging in Pre-operative Assessment of Anorectal Fistula With Surgical Correlation.

Background Anorectal fistulas are chronic inflammations of peri-anal tissues that form a connection between the perineal skin and the anal canal. Accurate preoperative evaluation of the main fistula's trajectory and pelvic tissues is essential for effective surgical treatment of anal fistulas. The inability to detect concealed lesions may result in the recurrence of fistulas and the conversion of a simple fistula into a complex fistula. Magnetic resonance imaging (MRI) imaging can detect concealed pathways and abscesses, thereby exposing the intricate connection between the fistula and anal-sphincter complex. This data serves as a roadmap for making surgical decisions, thereby reducing the likelihood of illness recurrence and complications after surgery. Aim To evaluate the role of MRI in pre-operative assessment of an anorectal fistula, compare its findings with surgical results. Materials and methods The research was conducted at the Radiology Department, Apollo Hospital, Hyderabad. It was a prospective observational study. IBM SPSS Statistics for Windows, Version 17 (released 2008; IBM Corp., Armonk, New York, United States) was utilized for data analysis. The mean and standard deviation were computed. We further applied appropriate statistical tests to determine the significance of MRI features with pre-operative findings. Results MRI accurately detects features like abscesses (sensitivity-100%, specificity-97.06%), secondary tracts of the fistula (sensitivity-93.55%, specificity-94.12%), horseshoe appearance, and supralevator extension (sensitivity-100%, specificity-97.50%, and 97.62%, respectively). Conclusion When comparing our results with intraoperative findings, MRI showed high sensitivity and specificity in detecting abscesses, secondary tracts, horseshoe appearances, and supralevator extensions. Our findings suggest that MRI can offer anatomical and pathological information for the pre-operative care and surgical planning of perianal fistulas.

Association of MTHFD1 G1958A Polymorphism with Gestational Diabetes Mellitus.

Background The MTHFD1 G1958A polymorphism is a common variation in the gene encoding methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), an enzyme crucial for folate metabolism. This study investigated the association between the MTHFD1 G1958A polymorphism, which is involved in folate metabolism, and gestational diabetes mellitus (GDM) risk. Methods A case-control study was conducted and 304 pregnant women (152 with gestational diabetes as cases and 152 healthy pregnant as controls) participated in the study. The polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) techniques were used to determine the MTHFD1 1958G>A polymorphism genotypes. Results Analysis of genotype frequencies revealed a statistically significant difference (p-value < 0.05) between the GDM group and the control group, suggesting a potential association between this gene variant and the development of GDM. Interestingly, while allele frequencies alone did not show a significant association with GDM risk, analysis in a recessive model (both severe and mild forms) demonstrated a strong link between the homozygous AA genotype and increased susceptibility to GDM. Conclusion This study provides the first evidence linking the MTHFD1 G1958A polymorphism and GDM risk in an Indian setting. These findings warrant further investigation into the functional impact of the MTHFD1 G1958A polymorphism and its potential role in the pathogenesis of GDM.

Familial multiple lipomatosis associated with multiple cherry hemangiomas and moles: a rare case report.

Lipomas are common benign mesenchymal tumours, whereas lipomatoses are uncommon. Familial multiple lipomatosis (FML) is a rare syndrome characterized by multiple usually painless lipomas which may be associated with other conditions. FML is considered to be genetic, with various patterns of inheritance suggested. In this case report, we described a case of multiple familial lipomatosis that was misdiagnosed as dercum's disease.

Irritant contact dermatitis due to povidone-iodine following a surgical intervention: An unusual case report.

The most common day-to-day antiseptic preparation used before any surgery usually involves povidone-iodine. Any irritant reaction to it can be devastating for the patient's aspect and would raise the need for a preliminary investigation prior to going through any antiseptic preparation. In literature, very few cases were reported on irritant dermatitis with povidone-iodine in Indian setting. We present a case of an 18-year-old female presented with irritant contact dermatitis due to povidone-iodine following a surgical intervention.

A Rare Case of Complete Cryptophthalmos and Suspected Fraser's Syndrome in a Female Neonate.

Cryptophthalmos is a rare congenital eye anomaly characterized by the absence of the palpebral fissure. Cryptophthalmos is often associated with Fraser's syndrome. We present a case of 3 days old female Asian neonate with complete unilateral cryptophthalmos, with the absence of a right eyelid. On inspection, there is an absence of eyelid, eyebrow and eyelashes in the right eye, collectively known as adnexal structures. The left eye was apparently normal. As per the parent's decision, surgical intervention was not pursued due to the poor visual prognosis. We advised prenatal genetic screening and testing for future pregnancies. These findings suggest the importance of genetic counseling and testing in cases of cryptophthalmos to identify potential genetic mutations and facilitate appropriate management.