Nail patella syndrome: a rare cause of renal failure in a young adult

Nail Patella Syndrome (NPS) is a rare hereditary disease affecting multiple systems with predominant involvement of Kidney, Bones and Nails and Eyes. We report a case of NPS which presented as renal failure in a 22 year old male. The patient was admitted with decreased urine output and features of fluid overload and was being evaluated for renal failure. Physical examination revealed associated bony deformities which raised the suspicion of NPS as a possible etiology. This was confirmed by the radiological evaluation which showed the classical features of NPS. Though NPS is a rare clinical condition, physicians should complete knowledge about the components of NPS for appropriate diagnosis and for early detection of other systems involvement

Prevalence of pulmonary tuberculosis in young adult patients with type 1 diabetes mellitus in India

Background: There is limited information on Prevalence of Pulmonary Tuberculosis (PTB) in patients with type-1-diabetes. We assessed the prevalence of PTB in patients with type-1-diabetes attending the outpatient-clinic in a tertiary-care hospital. Methods: 151 patients with type-1-diabetes were screened for PTB by clinical examination and chest-radiography. Sputum Acid-Fast Bacilli Test (AFB) and Mycobacterium tuberculosis (M. tb) culture were performed in patients with clinical and radiological features suggestive of a possibility of PTB and also in those with history of PTB in the past. Their average glycated haemoglobin (HbA1c) during preceding 2 years was assessed. Sputum culture positive patients were managed by a pulmonologist. Results: 5/151 patients had respiratory symptoms and radiographic findings suggestive of PTB. 20/151 patients were asymptomatic but had history of PTB. Four of the five symptomatic patients and 12 with past PTB were positive for sputum M. tb by culture, giving a prevalence of 10.6% sputum culture positive in type-1-diabetes. Average HbA1c was comparable in patients with and without positive sputum culture. ESR and Mantoux test were not discriminatory in these groups. Four clinically symptomatic M. tb culture positive and four asymptomatic patients with sputum culture positive for M. tb on two occasions (6 weeks apart) were put on Antitubercular Treatment (ATT). Patients who were culture positive for M. tb only on one occasion were kept on a close follow up. Conclusions: Patients with type-1-diabetes mellitus in India have high prevalence of PTB. They need to be actively screened for PTB by sputum M. tb culture in order to initiate early treatment and to prevent transmission in the community

A proposed methodology for detecting the malignant potential of pulmonary nodules in sarcoma using computed tomographic imaging and artificial intelligence-based models

The presence of lung metastases in patients with primary malignancies is an important criterion for treatment management and prognostication. Computed tomography (CT) of the chest is the preferred method to detect lung metastasis. However, CT has limited efficacy in differentiating metastatic nodules from benign nodules (e.g., granulomas due to tuberculosis) especially at early stages (<5 mm). There is also a significant subjectivity associated in making this distinction, leading to frequent CT follow-ups and additional radiation exposure along with financial and emotional burden to the patients and family. Even 18F-fluoro-deoxyglucose positron emission technology-computed tomography (18F-FDG PET-CT) is not always confirmatory for this clinical problem. While pathological biopsy is the gold standard to demonstrate malignancy, invasive sampling of small lung nodules is often not clinically feasible. Currently, there is no non-invasive imaging technique that can reliably characterize lung metastases. The lung is one of the favored sites of metastasis in sarcomas. Hence, patients with sarcomas, especially from tuberculosis prevalent developing countries, can provide an ideal platform to develop a model to differentiate lung metastases from benign nodules. To overcome the lack of optimal specificity of CT scan in detecting pulmonary metastasis, a novel artificial intelligence (AI)-based protocol is proposed utilizing a combination of radiological and clinical biomarkers to identify lung nodules and characterize it as benign or metastasis. This protocol includes a retrospective cohort of nearly 2,000–2,250 sample nodules (from at least 450 patients) for training and testing and an ambispective cohort of nearly 500 nodules (from 100 patients; 50 patients each from the retrospective and prospective cohort) for validation. Ground-truth annotation of lung nodules will be performed using an in-house-built segmentation tool. Ground-truth labeling of lung nodules (metastatic/benign) will be performed based on histopathological results or baseline and/or follow-up radiological findings along with clinical outcome of the patient. Optimal methods for data handling and statistical analysis are included to develop a robust protocol for early detection and classification of pulmonary metastasis at baseline and at follow-up and identification of associated potential clinical and radiological markers

An enigmatic route to the contralateral pelvicalyceal system on antegrade pyelogram

Introduction: The authors present the rare yet enigmatic phenomenon of ‘pyelo-renal’ backflow. Case Presentation: An eight-month-old boy with multiple congenital anomalies underwent left Anderson-Hynes Pyeloplasty for pelvi-ureteric junction obstruction. Antegrade dye-study done through the nephrostomy revealed obstruction at the level of the pelvi-ureteric junction, yet the contrast was visualized in the pelvis of contralateral kidney and urinary bladder (pyelo-venous backflow) masquerading as vesicoureteric reflux. The phenomenon of ‘pyelo-renal’ backflow along with pyelo-tubular, pyelo-interstitial, pyelo-sinusal and pyelo-lymphatic backflow have been described and the respective mechanisms discussed. Conclusion: The phenomenon is known to happen in the presence of obstruction to outflow from renal pelvis thereby creating a closed compartment. Injection of contrast at a pressure above the critical limit may result in forniceal tears and back-flow of contrast into the renal tubules and beyond

Clinical, hormonal and radiological profile of 46XY disorders of sexual development

Background and Objectives: 46 XY disorders of sexual development (DSD) cover a wide spectrum of phenotypes ranging from unambiguous female genitalia to ambiguous male genitalia with hypospadias or dysgenetic gonads. Management of these patients depends on the cause of DSD, degree of feminization, age at presentation, and gender orientation. The aim of this study was to evaluate the presentation and management of patients with 46XY DSD at our center. Patients and Methods: All new and old patients of 46XY DSD attending the endocrine OPD in a period of 16 months were included in this study. Clinical, cytogenetic, hormonal, and radiological evaluation were done to identify the cause of DSD. Results: Among 19 patients, eight were diagnosed with disorders of gonadal development (one with complete gonadal dysgenesis, four with partial gonadal dysgenesis, two with congenital bilateral anorchia, and one with ovotesticular DSD) and eight with disorders of androgen synthesis and action (one with complete androgen insensitivity syndrome [AIS], three with partial AIS and four with 5α reductase deficiency). In three patients, a definitive diagnosis could not be made. Conclusions: Management of patients with DSD depends on etiology, gender assignment, gender orientation, hormonal treatment, genital surgery, and consequent psychosocial implications. Due to the overlapping clinical and biochemical parameters in different subsets of DSD, only a preliminary etiological diagnosis can be made in some cases. Genetic studies with long-term follow-up are required for an accurate diagnosis

Pediatric chylous ascites treatment with combined ultrasound and fluoroscopy-guided intranodal lymphangiography

Chylous ascites is a form of ascites resulting from the leakage of lymph into the peritoneal cavity, which is particularly rare in children, most common etiology being an iatrogenic injury to lymphatics during surgery. Initial conservative management options include medium-chain triglycerides-based diet, somatostatin analogs, and total parenteral nutrition. If these fail, then interventions such as paracentesis with sclerotherapy, surgical ligation, or peritoneal shunts have been described. This study reports a case of a 7-year-old child with refractory chylous ascites to demonstrate a minimally invasive technique of intranodal lymphangiography with lipiodol as a viable treatment option for chylous ascites in children, particularly in cases of minor and undetectable leaks

A Retrospective Analysis of 334 Cases of Hemoptysis Treated by Bronchial Artery Embolization

Objectives: To analyze the safety and efficacy of bronchial artery embolization (BAE) in the management of hemoptysis. Methods: We conducted a retrospective study of 334 patients who had undergone BAE for hemoptysis from January 2007 to July 2013. Our study included 255 (76.3%) males and 79 (23.7%) females with an age range from five to 81 years old. All relevant arteries were evaluated but only those arteries that showed hypertrophy and significant blush were targeted. Polyvinyl alcohol (PVA) was used in all patients and gel foam was used in combination with PVA where there was significant shunting. Results: Mild hemoptysis was seen in 70 patients, moderate in 195 patients, and severe in 69 patients. On imaging, right side disease was seen in 101 patients, left side involvement in 59 patients, and bilateral involvement in 174 patients. Post-tubercular changes were the predominant pathology seen in 248 patients. Among 334 patients (386 procedures), 42 patients underwent the procedure twice and five patients underwent the procedure thrice. A total of 485 arteries were attempted of which 440 arteries were successfully embolized. Right intercosto-bronchial was the most common culprit artery present in 157 patients, followed by common bronchial (n=97), left bronchial (n=55), and right bronchial (n=45). We embolized a maximum of four arteries in one session. Immediate complications such as dissection and rupture occurred in only nine sessions (2.3%). Twenty-five procedures (6.5%) were repeated within two months, which were due to technical or clinical failure and 27 procedures (7%) were repeated after two months. Conclusions: BAE is a safe and effective procedure with a negligible complication rate. Our approach of targeting hypertrophied arteries was effective