Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing

Microcephaly is a frequent feature of neurodevelopmental disorders (NDDs). Our study presents the heterogeneous spectrum of genetic disorders in patients with microcephaly either in isolated form or in association with other neurological and extra-neural abnormalities. We present data of 91 patients from 87 unrelated families referred to our clinic during 2016–2020 and provide a comprehensive clinical and genetic landscape in the studied cohort. Molecular diagnosis using exome sequencing was made in 45 families giving a yield of 51.7%. In 9 additional families probable causative variants were detected. We identified disease causing variations in 49 genes that are involved in different functional pathways Among these, 36 had an autosomal recessive pattern, 8 had an autosomal dominant pattern (all inherited de novo), and 5 had an X-linked pattern. In 41 probands where sequence variations in autosomal recessive genes were identified 31 were homozygotes (including 16 from non-consanguineous families). The study added 28 novel pathogenic/likely pathogenic variations. The study also calls attention to phenotypic variability and expansion in spectrum as well as uncovers genes where microcephaly is not reported previously or is a rare finding. We here report phenotypes associated with the genes for ultra-rare NDDs with microcephaly namely ATRIP, MINPP1, PNPLA8, AIMP2, ANKLE2, NCAPD2 and TRIT1.     

Clinical outcomes of intraoperative dopamine infusion for hypotensive patients during breast reconstruction with deep inferior epigastric perforator (DIEP) flaps

1. Download : Download high-res image (376KB)
2. Download : Download full-size image

     

REFUGE Challenge: A unified framework for evaluating automated methods for glaucoma assessment from fundus photographs

Glaucoma is one of the leading causes of irreversible but preventable blindness in working age populations. Color fundus photography (CFP) is the most cost-effective imaging modality to screen for retinal disorders. However, its application to glaucoma has been limited to the computation of a few related biomarkers such as the vertical cup-to-disc ratio. Deep learning approaches, although widely applied for medical image analysis, have not been extensively used for glaucoma assessment due to the limited size of the available data sets. Furthermore, the lack of a standardize benchmark strategy makes difficult to compare existing methods in a uniform way. In order to overcome these issues we set up the Retinal Fundus Glaucoma Challenge, REFUGE (https://refuge.grand-challenge.org), held in conjunction with MICCAI 2018. The challenge consisted of two primary tasks, namely optic disc/cup segmentation and glaucoma classification. As part of REFUGE, we have publicly released a data set of 1200 fundus images with ground truth segmentations and clinical glaucoma labels, currently the largest existing one. We have also built an evaluation framework to ease and ensure fairness in the comparison of different models, encouraging the development of novel techniques in the field. 12 teams qualified and participated in the online challenge. This paper summarizes their methods and analyzes their corresponding results. In particular, we observed that two of the top-ranked teams outperformed two human experts in the glaucoma classification task. Furthermore, the segmentation results were in general consistent with the ground truth annotations, with complementary outcomes that can be further exploited by ensembling the results.     

Recent advances in the development of microparticles for pulmonary administration

1. Download : Download high-res image (159KB)
2. Download : Download full-size image

     

Intussusception in a premature neonate: A rare and often misdiagnosed clinical entity

Intussusception is a very rare cause of intestinal obstruction in neonates. It is of extremely rare occurrence among premature neonates. We present a case of 11-day-old premature neonate who presented with abdominal distension, intolerance to feeds, vomiting, significant bilious aspirate and bleeding per rectum. The initial diagnosis of necrotizing enterocolitis (NEC) led to a delay in the diagnosis. On exploratory laparotomy, it turned out to be a case of ileo-colic intussusception with Meckel''s diverticulum as a lead point. This site of intussusception (ileo-colic) and presence of a lead point among premature neonate is of exceedingly rare occurrence and very few such cases have been reported.In this article, the published work about clinical features and management on intussusceptions in premature neonates has been reviewed. The authors intend to highlight the difficulty in distinguishing the NEC and intussusception. Subtle clinical and radiological features which can help in differentiating the two conditions have been emphasized. This can avoid the delay in diagnosis and management which can prove critical. High index of suspicion with timely intervention is the key for optimizing outcome. A diagnosis of intussusception should always be considered in any preterm infant with suspected NEC.     

An electronic travel guide for visually impaired – vehicle board recognition system through computer vision techniques

Abstract

Purpose: In the context of assistive technology, mobility takes the meaning of “moving safely, gracefully, and comfortably”.The aim of this article is to provide a system which will be a convenient means of navigation for the Visually Impaired people, in the public transport system.

Method: A blind regular commuter who travels by public transport facility finds difficulty in identifying the vehicle that is nearing the stop. Hence, a real-time system that dynamically identifies the nearing vehicle and informs the commuters is necessary. This paper proposes such a system namely the “Vehicle Board Recognition System” (VBRS). Computer Vision techniques such as segmentation, object recognition, text detection and optical character recognition are utilized to build the system, which will detect, analyze, derive and communicate the information to the passengers.

Results: Thanks to the rapid development in technology, there are several navigation systems both hand held and wearable, available to help visually impaired (VI) people move comfortably both indoor and outdoor. Many blind people are not comfortable in using these devices or they are not affordable for them. Thus the proposed system gives them the comfort of navigation.

Conclusion: This system can be installed in the bus stop to assist the Visually Impaired, from externally rather than their hand held or wearable assistive devices.

• Implications for rehabilitation

• This proposed system will help the visually impaired to

• ensure secure navigation

• be independent of the others

• develop self confidence.

• overcome the training, affordability of wearable/ handheld devices.

     

Distinguishing between periampullary carcinoids and carcinomas--is this possible preoperatively?

It is difficult to distinguish between carcinoid tumors of the pancreatic head and periampullary region and carcinomas preoperatively. Between 1996 and 2002, 125 consecutive pancreaticoduodenectomies done by us for periampullary tumors (14 carcinoids, 111 carcinomas) were analyzed. Patients with carcinoid tumors had significantly younger mean age (48 vs. 54 years), longer history (32 vs. 8 weeks), lower serum total bilirubin levels (1.4 vs. 6.3 mg/dL) and on CT scan, had larger, well-localized tumors (5 cm vs. 2 cm). Their postoperative course was better with no mortality or major morbidity, whereas after resection for carcinoma 7 (6.3%) patients died and 30 (27%) had major postoperative complications. Thus, a tumor of this region in a young patient with indolent history, low bilirubin level and with CT scan depicting a large expansile lesion suggests a carcinoid. Such tumors may be safely resected with low postoperative morbidity and mortality and good long-term prognosis.     

A simple classification for standardisation of nomenclature in free flap outcome.

The numbers of free flap donor site as well as their indications are constantly increasing. Despite increasing popularity of microvascular reconstructive procedures, literature lacks clear and objective outcome criteria. This paper reports on a simple outcome classification that has become a routine part of the unit's large workload of microvascular outcome recording. The classification was formed through a retrospective analysis of 241 consecutive cases from 2000 to 2001 and is a five graded numerical classification. Grade 1 equates to total success without co-morbidity and grade 5 to a major complication such as amputation, etc., whatever the status of the flap itself. From 2002 to 2005 the classification was prospectively used on 527 consecutive cases with ease of integration into routine clinical practice. The Classification would enable a more objective record keeping thus analysis of the outcome. It would allow a more realistic comparison of different techniques or donor types as well set a benchmarking level for further improvement of the results.