Antenatal unilateral upper limb acromesomelic dysplasia.

Acromesomelic dysplasia (AMD) is an umbrella term given to a heterogeneous group of progressive skeletal disorders characterized by short limbed dwarfism associated with disproportionate shortening of middle and distal segments of the upper as well as lower limbs. Although specific skeletal anomalies are difficult to diagnose antenatally, but because of their antenatal and postnatal implications and a possibility of reoccurrence in following pregnancies, such skeletal anomalies need to be actively addressed. A combination of radiologic, pathologic, genetic and molecular investigation prenatally as well as postnatally is required to classify a specific congenital skeletal dysplasia. Once the genetic make-up of fetal skeletal dysplasia is deciphered, a meaningful genetic counselling could be offered for future pregnancies of affected families. We describe a case of primigravida diagnosed with fetal unilateral upper limb AMD on antenatal ultrasound done at early second trimester. The radius and ulna of left upper limb were abnormally short (less than 5th centile of the mean for that gestational age). The left hand was also hypoplastic. Rest of the sonographic anomaly scan was normal. To the best of our knowledge, AMD limited to unilateral upper limb diagnosed antenatally as an isolated finding is not described in the medical literature so far.

A Rare Case of Intracardiac Lipoma Arising from the Papillary Muscle.

Transthoracic echocardiography and cardiac magnetic resonance imaging revealed a well-defined globular mass attached to the anterolateral papillary muscle. The mass was hyperintense on T1 and T2 weighted images with suppression of signal on fat saturated and short tau inversion recovery (STIR) images. This imaging established the diagnosis of cardiac lipoma attached to the anterolateral papillary muscle, Papillary muscle is a very rare location of lipoma, which is rarely reported in the literature.

'Scrotal "Sack" - A Bag of Worms': Scrotal Arteriovenous Malformation.

Scrotal arteriovenous malformation (AVM) is an unusual entity with its own important clinical implications. Described only as a few case reports in medical literature, it not only can cause life-threatening haemorrhage because of its superficial location in the scrotum but also can result in infertility. We report the case of a 35-year-old man who had a progressively increasing scrotal swelling for almost 20 years and now presented for infertility workup. He had oligospermia on semen analysis with a normal testosterone level and no history of testicular infection or scrotal surgery. On scrotal sonography and computed tomography angiography, he was diagnosed to have bilateral scrotal AVMs which may have resulted in his oligospermia. Pre-operative embolisation and surgery was offered as a treatment option which the patient declined and was lost to follow-up. However, this case describes scrotal AVM as an important and possibly correctable cause of infertility. Usually diagnosed as scrotal lymphedema clinically, the case has been reported so that the clinician should be aware of this entity as a plausible cause of male infertility and the treatment could be refined and accelerated.

A case report of pulmonary alveolar microlithiasis with pulmonary tuberculosis.

Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease characterised by the deposition of calcium phosphate microliths in the alveoli. PAM has been reported in all continents and there is often a familial history. There is clinical-radiological dissociation as there is often a paucity of symptoms in contrast to the imaging findings. Patients often remain asymptomatic until the third or fourth decade of life, and dyspnea is the most common symptom. PAM is caused by a mutation within the solute carrier family 34 member 2 gene (the SLC34A2 gene) located on chromosome 4p15.2, which encodes a sodium/phosphate co-transporter. The imaging appearance of the disease is quite pathognomic with the high-resolution computed tomography (HRCT) demonstrating a diffuse micronodular appearance. Transbronchial lung biopsy also confirms the diagnosis. There is no effective therapy at present except lung transplantation. We herein, present a case of PAM along with clinical history, imaging study, histopathological study and genetic study of a 43-year-old female adult patient along with genetic analysis.

Correlation of Sonographic Parameters with Renal Function in Patients with Newly Diagnosed Chronic Kidney Disease.

Aims: To correlate sonographic renal parameters (mean renal cortical thickness, length and volume) with renal functions in patients with newly diagnosed chronic kidney disease. To predict the best renal parameter correlating with renal functions in patients with newly diagnosed chronic kidney disease. Material and methods: A hospital-based prospective cross-sectional study was conducted in the Department of Radiodiagnosis, Indira Gandhi Medical College and Hospital, Shimla, in 78 adults with newly diagnosed chronic kidney disease visiting the hospital from December 2019 to November 2020. Results: A statistically significant positive correlation was found between eGFR and mean renal length, mean renal cortical thickness, and mean renal volume (p <0.001).The strongest correlation was shown between mean renal volume and eGFR (r = 0.90, r2 = 0.82; p-value <0.001). Conclusions: Renal volume and cortical thickness should be considered along with traditional renal parameters.

Role of lung ultrasound in diagnosing and differentiating transient tachypnea of the newborn and respiratory distress syndrome in preterm neonates.

Aim: To evaluate the accuracy of lung ultrasound in diagnosing and differentiating transient tachypnea of the newborn and respiratory distress syndrome in preterm neonates. Material and methods: This was a single-center study. From January 2020 to June 2021. A total of 100 preterm neonates, admitted to the neonatal intensive care unit with symptoms of respiratory distress within six hours of birth, including 50 diagnosed with transient tachypnea of the newborn and 50 with respiratory distress syndrome on the basis of clinical examination, laboratory testing, chest X-rays, were recruited in the study. Lung ultrasound was performed in each neonate by a senior radiologist who was blinded to the clinical diagnosis. Lung ultrasound findings in both conditions were analyzed and compared. Results: Pulmonary edema manifesting as alveolar-interstitial syndrome, double lung point sign and less commonly as white out lungs in the absence of consolidation has 100% sensitivity and specificity in diagnosing transient tachypnea of the newborn. A combination of three signs of consolidation with air or fluid bronchograms, white out lungs and absent spared areas has 100% sensitivity and specificity for diagnosing respiratory distress syndrome. Double lung point sign was seen only in infants suffering from transient tachypnea of the newborn and consolidation with air or fluid bronchograms only in cases of respiratory distress syndrome. Conclusion: Lung ultrasound can accurately diagnose and reliably differentiate transient tachypnea of the newborn and respiratory distress syndrome in preterm neonates. It has advantages that cannot be replicated by chest radiography. Lung ultrasound may be used as an initial screening tool.

Clinical Profile and Outcome of Acute Pancreatitis: A Hospital-Based Prospective Observational Study in Subhimalayan State.

Background: Prospective and population-based studies on the incidence of acute pancreatitis (AP) are lacking. We aimed to determine the incidence, etiology, severity, and outcome of AP. Materials and Methods: This was an observational prospective study done on 123 patients with AP during one year period in IGMC, Hospital Shimla. Detailed Clinical history was recorded and examination and lab investigations were done. Severity of AP was assessed using modified Atlanta classification. Results: In this study, 123 patients were included- 89 men (72.35%) and 34 women (27.65%). Median age of presentation was 42 years. The most common presentation was abdominal pain followed by vomiting. The major etiological groups were as follows: alcohol 73 cases (59.3%), gallstones 40, (35.6%); postendoscopic retrograde cholangio-pancreatography 1 (0.8%), hypertriglyceridemia 3 (2.9%), autoimmune 1 (0.8%) and idiopathic 5 cases (4%). Alcohol was the most common cause of AP and followed by gallstone. Mortality was seen in 7(5.7%) patients. Out of seven patients who died in hospital, 5(71.42%) had severe pancreatitis and 2(28.57%) patients had moderately severe pancreatitis. When compared, patients with BMI ≥25, HCT≥44% and CRP ≥150mg/l had an increased risk of developing a severe form of AP. Conclusions: Alcohol and gallstones were the most common etiology of AP. HCT, CRP and BMI done at admission are useful predictors of severe pancreatitis.

Tibialis Anterior Muscle Hernia: A Case of Chronic, Dull Pain and Swelling in Leg Diagnosed by Dynamic Ultrasonography.

BACKGROUND: Symptomatic muscle hernias are not uncommon in the lower extremities and are a rare cause of chronic leg pain. They are most commonly seen in the tibialis anterior muscle, occurring through fascial defects, usually after trauma. There are about 200 cases of muscle hernias described in the literature. The diagnosis is challenging as most of the patients present with non-specific chronic leg pain. Dynamic muscle ultrasonography at rest and at stress is often used for the diagnosis. CASE REPORT: We describe a case of tibialis anterior muscle hernia presenting with persistent dull pain and swelling along the anterior aspect of the leg on straining the leg muscles. Dynamic ultrasonography was performed, which showed a defect in the fascial sheath of the muscle through which the tibialis anterior muscle herniated and produced a focal bulge along the anterior aspect of the leg. Based upon physical examination and dynamic ultrasonographic findings, a diagnosis of tibialis anterior muscle hernia was made. CONCLUSIONS: Tibialis anterior muscle hernia is a rare diagnosis and should be included in the differential diagnosis in a patient with chronic leg pain and swelling. Dynamic ultrasound is crucial in confirming the diagnosis and should be done on straining the muscles of the affected limb.

Unusual presentation of adult Marfan syndrome as a complex diaphragmatic hiatus hernia.

Marfan syndrome is multisystem connective tissue disorder that primarily involves the skeletal, cardiovascular, and ocular systems. The gastrointestinal complications in Marfan syndrome are rare, with only a few case reports described in the literature. We present a 25-year-old woman who presented with acute abdominal pain for 1 day. The imaging features revealed complex diaphragmatic hiatus hernia with organoaxial gastric volvulus. This is a unique case report about an adult patient with Marfan syndrome who presented with symptomatic paraesophageal hernia and organoaxial gastric volvulus.

Dystonia an unusual presentation in pediatric moyamoya disease: Imaging findings of a case.

Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by idiopathic occlusion of bilateral internal carotid arteries and the development of characteristic leptomeningeal collateral vessels along anterior or posterior circulation. We present an unusual case of MMD presenting with generalized dystonia as the predominant manifestation.

Cystic pulmonary hydatidosis.

Cystic echinococcosis (CE) is a zoonotic parasitic disease caused by the larval stages of the cestode Echinococcus granulosus. Worldwide, pulmonary hydatid cyst is a significant problem medically, socially, and economically. Surgery is the definitive therapy of pulmonary hydatidosis. Benzimidazoles may be considered in patients with a surgical contraindication. This review will focus on pathogenesis, lifecycle, clinical features, and management of pulmonary hydatid disease.

Use of High-Resolution Computed Tomography (HRCT) in Diagnosis of Sputum Negative Pulmonary Tuberculosis.

OBJECTIVES: To study the role of high-resolution computed tomography (HRCT) in the diagnosis of pulmonary tuberculosis (PTB) in sputum smear negative patients and to design HRCT criterion to forecast the threat of pulmonary tuberculosis. MATERIAL AND METHODS: We studied 69 patients having sputum smear negative for acid-fast bacilli (AFB) but still with clinical suspicion of PTB after taking written informed consent. We studied their medical characteristics, numerous separate HRCT-results and combination of HRCT findings to foresee the danger for PTB by utilizing univariate and multivariate investigation. Temporary HRCT diagnostic criteria were planned in view of these outcomes to find out the risk of PTB and tested these criteria on our patients. RESULTS: Chronic cough and night sweats were highly linked to a greater risk of PTB among clinical features. On HRCT chest presence of cavity, centrilobular nodules, consolidation, ground glass opacity (GGO), lymphadenopathy, main lesion in S1, S2, S6, lobular consolidation, other minute nodules and tree in bud appearance was significantly linked to an elevated risk of PTB in linear regression analysis. While cavity, centrilobular nodules, interlobular septal thickening, pleural effusion and tree-in-bud appearance was significantly linked to a greater threat of PTB in multivariate regression analysis. Positioning of the patients utilizing our HRCT indicative criteria uncovered reliable sensitivity and specificity for PTB patients determining that HRCT is a useful tool in sputum negative PTB patients. CONCLUSION: HRCT is useful in selecting individuals with greater chances of PTB in the sputum smear-negative setting.

Volumetric CT perfusion assessment of treatment response in head and neck squamous cell carcinoma: Comparison of CT perfusion parameters before and after chemoradiation therapy.

BACKGROUND AND PURPOSE: World Health Organization estimated that there were 600,000 new cases of head and neck cancers and 300,000 deaths each year worldwide. Scientific modalities to predict the treatment outcomes are not available yet. We conducted this study to (1) compare CT perfusion parameters before and after chemoradiation among patients with head and neck squamous cell carcinoma and (2) to evaluate the prognostic value of each perfusion parameter in predicting the response to chemoradiation. MATERIALS AND METHODS: We conducted a prospective study among all patients with head and neck squamous cell carcinoma registered for chemoradiotherapy (CRT) at Regional Cancer Research Center, Shimla, Himachal Pradesh, India during the period June 2012 through June 2013. CTp data were acquired on a 64-slice CT scanner (Light speed VCT Xte; GE Healthcare) with 14 cm z-axis coverage using Volume Helical Shuttle (VHS) feature at baseline, on completion of 40 Gy and 66 Gy of chemoradiation. We dichotomised the treatment outcome as complete response and non-response (partial responders/stable disease/progressive disease) using RECIST 1.1 criteria. We compared all perfusion parameters at baseline, 40 Gy and 66 Gy of CRT between responders and non-responders. We dichotomised the perfusion parameters as high (>median value) and low (≤median value) to analyze association between perfusion parameters and treatment outcome. We calculated the sensitivity, specificity, predictive values, and likelihood ratios for each dichotomized perfusion parameter using Wilson Score method. RESULTS: We followed 24 patients (23 of them men) from start of the treatment till completion of it. All had Stage III or Stage IV of the disease. Blood flow (BF) and blood volume (BV) decreased and Mean Transit Time (MTT) increased significantly (p < 0.05) at 66 Gy among responders to CRT as compared to non-responders. Patients with high BF (>106 ml/100 g/min) at baseline were five times more likely (p = 0.004) to respond to treatment as compared to those with low BF. BF was found to be 83.3% predictive of complete response. Other perfusion parameters were not significantly predictive of outcome (p > 0.05) Combination of high BF (>106 ml/100 g/min) and low (≤47 ml/100 g/min) permeability surface (PS) was 100% predictive of response to CRT irrespective of the stage of tumor. CONCLUSIONS: High BF at baseline is the single best predictor of response to chemoradiaton. A combination of high BF and low PS was found to be 100% predictive of complete response irrespective of the stage of the tumor.