Congenital Etiology Research Articles

Magnetic Resonance Imaging as a Diagnostic and Research Tool in Patients with Olfactory Dysfunction: A Systematic Review.

Patients with acquired, idiopathic olfactory dysfunction (OD) commonly undergo magnetic resonance imaging (MRI) evaluation to rule out intracranial pathologies. This practice is highly debated given the expense of MRI relative to the probability of detecting a treatable lesion. This, combined with the increasing use of MRI in research to investigate the mechanisms underlying OD, provided the impetus for this comprehensive review. The purpose of this systematic review was to both assess the utility of MRI in diagnosis of idiopathic OD and to describe MRI findings among mixed OD etiologies to better understand its role as a research tool in this patient population. A literature search of PubMed, Embase, Cochrane, Web of Science, and Scopus for studies with original MRI data for patients with OD was completed. Studies exclusively investigating patients with neurocognitive deficits or those studying traumatic or congenital etiologies of OD were excluded. From 1758 candidate articles, 33 studies were included. Four studies reviewed patients with idiopathic OD for structural pathologies on MRI, of which 17 of 372 (4.6%) patients had a potential central cause identified, and 3 (0.8%) had an olfactory meningioma or olfactory neuroblastoma. Fourteen studies (42.4%) reported significant correlation between olfactory bulb volume and olfactory outcomes, and 6 studies (18.8%) reported gray matter volume reduction, specifically in the orbitofrontal cortex, anterior cingulate cortex, insular cortex, parahippocampal, and piriform cortex areas, in patients with mixed OD etiologies. Functional MRI studies reported reduced brain activation and functional connectivity in olfactory network areas. MRI uncommonly detects intracranial pathology in patients with idiopathic OD. Among patients with mixed OD etiologies, reduced olfactory bulb and gray matter volume are the most common abnormal findings on MRI. Further research is required to better understand the role of MRI and its cost-effectiveness in patients with acquired, idiopathic OD.

Recurrent Syncopal Episodes Due to Atlanto-Axial Instability – An Unusual Presentation of Os Odontoideum

Os odontoideum is a rare cause of atlantoaxial instability. Despite being first described in 1886, its pathogenesis is still unclear, with theories for both congenital and traumatic etiologies. We report on an atypical presentation of this pathology, in a patient who was being investigated for recurrent syncopal episodes during performance of everyday activities, and who was unexpectedly found to have an os odontoideum. The patient underwent occipito-cervical fusion and had complete resolution of all her symptoms postoperatively.

Characteristics and Treatment of Young Adult-Onset Hydrocephalus

Certain congenital or developmental anomalies of adult-onset hydrocephalus often share clinical symptoms with idiopathic normal pressure hydrocephalus(iNPH). These anomalies include long-standing overt ventriculomegaly in adults(LOVA), persistent Break's pouch cyst(PBC)and panventriculomegaly(PaVM). Certain patients with adult-onset hydrocephalus might have congenital or secondary etiologies, such as late-onset idiopathic aqueductal stenosis(LIAS), and syndrome of hydrocephalus in young and middle-aged adults(SHYMA). Some of these conditions have unknown etiologies, and the definitions of LOVA differ between Japan and overseas. Adult-onset hydrocephalus usually presents with chronic onset, with younger patients tending to have headaches and older patients tending to have iNPH symptoms. In cases where the third ventricle floor bulging, endoscopic third ventriculostomy(ETV)is often performed. However, the arachnoid membrane of the pontine cistern might be strong, and the brain stem might be shifted to the clivus due to the enlarged fourth ventricle. For treating such patients, experienced hands might be needed. At present, it is necessary to carefully examine the cerebrospinal fluid dynamics in each patient and select the best test and treatment.

Cognitive and gait outcomes after primary endoscopic third ventriculostomy in adults with chronic obstructive hydrocephalus.

The object of this study was to determine the short- and long-term efficacy of primary endoscopic third ventriculostomy (ETV) on cognition and gait in adults with chronic obstructive hydrocephalus. Patients were prospectively accrued through the Adult Hydrocephalus Clinical Research Network patient registry. Patients with previously untreated congenital or acquired obstructive hydrocephalus were included in this study. Gait velocity was assessed using a 10-m walk test. Global cognition was assessed with the Montreal Cognitive Assessment (MoCA). Only patients with documented pre- and post-ETV gait analysis and/or pre- and post-ETV MoCA were included. A total of 74 patients had undergone primary ETV, 42 of whom were analyzed. The remaining 32 patients were excluded, as they could not complete both pre- and post-ETV assessments. The mean age of the 42 patients, 19 (45.2%) of whom were female, was 51.9 ± 17.1 years (range 19-79 years). Most patients were White (37 [88.1%]), and the remainder were Asian. Surgical complications were minor. Congenital etiologies occurred in 31 patients (73.8%), with aqueductal stenosis in 23 of those patients (54.8%). The remaining 11 patients (26.2%) had acquired cases. The gait short-term follow-up cohort (mean 4.7 ± 4.1 months, 35 patients) had a baseline median gait velocity of 0.9 m/sec (IQR 0.7-1.3 m/sec) and a post-ETV median velocity of 1.3 m/sec (IQR 1.1-1.4 m/sec). Gait velocity significantly improved post-ETV with a median within-patient change of 0.3 m/sec (IQR 0.0-0.6 m/sec, p < 0.001). Gait velocity improvements were sustained in the long term (mean 14 ± 2.8 months, 12 patients) with a baseline median velocity of 0.7 m/sec (IQR 0.6-1.3 m/sec), post-ETV median of 1.3 m/sec (IQR 1.1-1.7 m/sec), and median within-patient change of 0.4 m/sec (IQR 0.2-0.6 m/sec, p < 0.001). The cognitive short-term follow-up cohort (mean 4.6 ± 4.0 months, 38 patients) had a baseline median MoCA total score (MoCA TS) of 24/30 (IQR 23-27) that improved to 26/30 (IQR 24-28) post-ETV. The median within-patient change was +1 point (IQR 0-2 points, p < 0.001). However, this change is not clinically significant. The cognitive long-term follow-up cohort (mean 14 ± 3.1 months, 15 patients) had a baseline median MoCA TS of 23/30 (IQR 22-27), which improved to 26/30 (IQR 25-28) post-ETV. The median within-patient change was +2 points (IQR 1-3 points, p = 0.007), which is both statistically and clinically significant. Primary ETV can safely improve symptoms of gait and cognitive dysfunction in adults with chronic obstructive hydrocephalus. Gait velocity and global cognition were significantly improved, and the worsening of either was rare following ETV.

The role of Rehabilitation in pediatric amputation – A 10-year retrospective study in a Portuguese population

Introduction: Limb amputation in pediatric population, whether congenital or acquired, has a set of attributes that require a different medical approach and rehabilitation management. Objectives: To characterize the pediatric population referred to the Amputee Rehabilitation consultation and evaluate amputation type and segment relationship with prosthesis usage. Material and methods: We conducted a retrospective study based on the clinical information from patients referred to the Pediatric Rehabilitation consultation between January 2011 and March 2021. The variables analyzed included gender, type, and etiology of amputation, amputation level, age of prosthesis, time to the first prosthesis, pre-prosthetic training, number of components prescribed, waiting time per component, and prosthesis use. Results: The study included 50 patients, 68% of congenital etiology. Within the group of acquired amputations, 62.5% had neoplastic causes. The initial use of a prosthesis occurred in 91.7% of the population with upper limb amputations. However, the final adhesion of the upper limb prosthesis was only 50%. There was a statistically significant dependence and a moderate association between the amputated segment and the final use of the prosthesis. The abandonment risk of upper limb prosthesis was seven times higher than lower limb prosthesis. The remaining variables did not demonstrate any other type of significant association. Conclusion: In pediatric age, congenital amputations are more frequent than acquired causes. However, contrary to other data, malignancy was the most frequent etiology in this study within acquired amputations. Regardless of the type of amputation, the use of a prosthesis is related to the affected segment. The abandonment risk of upper limb prostheses is significant, given the development of compensatory strategies that allow the functional use of the limb. Physical and Rehabilitation Medicine plays an essential role in the assessment and management of pediatric amputation. Prescribing at the right time, carrying out an adequate program, with the child and family, is the key to their functional independence.

Abstract WMP41: Heart Failure, Age And Functional Outcomes After Ischemic Stroke

Background: The presence of cardiovascular risk factors and associated diseases, including heart failure (HF), has been associated with worse outcomes following stroke. It is unclear however whether the association between HF and poor outcomes persists in younger cohorts, in whom HF is less often a consequence of long-standing cardiovascular disease. We hypothesize prevalent heart failure has differential associations with post-stroke functional outcomes across age groups. Methods: We performed a retrospective analysis of patients admitted with acute ischemic stroke at Columbia University Medical Center between 1990-2020 for whom adjudicated data was available at the time of analyses. Demographic, clinical variables including NIHSS and TPA administration, and functional outcomes were extracted. Good functional outcome was defined as a discharge modified Rankin score ≤ 2. Multivariable regression models were used to determine adjusted odds ratios (aORs) and 95% confidence intervals (95% CI). Results: Of the 855 patients hospitalized with ischemic stroke, 47% were women, 32% were ≤ 60 years, and 139 (16%) had pre-existing heart failure. Good functional outcome was seen in 456 (53%), in patients who had a mean age of 67.2 (16.4) years. Age as a continuous measure modified the effect of prevalent heart failure on the odds of good functional outcome (P = 0.001 for interaction). Among patients ≤ 60 years, after controlling for cardiovascular risk factors, NIHSS and TPA use, prevalent heart failure was associated with greater odds of good functional outcome (aOR: 1.33, 95% CI: 1.08-13.14) compared to young adults without HF. Among older stroke patients, HF was non-significantly associated with lower odds of good functional outcome (aOR: 0.86, 95% CI: 0.50-1.50). Conclusion: Premature heart failure (often due to congenital defects, hereditary cardiomyopathies, infections or other non-vascular etiologies) in younger stroke patients may be a marker of lower cardiovascular disease burden compared to young adults with stroke secondary to traditional stroke risk factors. These factors may play a larger role in post-stroke outcomes and recovery.

Management of Femur and Tibial Leg Length Discrepancies With a Unilateral External Fixator Is Still Viable When More Advanced Techniques and Hardware Are Unavailable or Cost-Prohibitive.

IntroductionLeg length discrepancy (LLD) is an infrequent diagnosis, most commonly occurring congenitally in children and rarely in traumatic incidents in adults. Circumferential external fixators are considered the optimal treatment method, but can be very costly and are not always readily available in less developed nations. The unilateral external fixator predates the circumferential but is more easily available and accessible worldwide and less expensive. This study sought primarily to characterize treatment outcomes using a unilateral external fixator where more advanced forms of treatment for LLD are not available. Secondary objectives included the site of the discrepancy and comparison of etiologies.MethodsData were retrospectively reviewed from January 2010 to December 2017 on patients undergoing unilateral external fixation at our institution. Nineteen patients met the criteria, 14 with congenital LLD and five with lower leg bone loss from trauma. Patient demographics (including gender and age), initial presentation, physical examination findings, radiographic findings, and treatment were collected and saved in an electronic medical record.ResultsThere were 19 cases of LLD overall, with 14 cases on the tibia and 5 on the femur. Three of the five femur cases occurred in the trauma subgroup. There were 15 cases of congenital LLD and five cases of traumatic LLD. The mean overall LLD was 3.9 cm (2.3-5.2). The mean follow-up until healing for the entire cohort was 10 months (5-22). Patients with congenital LLD were younger than those with traumatic LLD (10.2 years versus 22.5 years, p=0.000013), more likely to have a tibial discrepancy (p=0.034), and had a shorter time frame until full healing (7.6 months versus 19 months, p 0.00001). Patients with a tibial LLD were more likely to have a congenital etiology (p=0.0374) and had a shorter time until full healing compared to patients with a femur LLD (8.5 months versus 14 months, p=0.03541).Conclusion We conclude that bone lengthening utilizing the unilateral external fixator is a good method and is cost-effective for bone lengthening where more advanced techniques are not available or cost-prohibitive. It is simple, and patients and families can collaborate with the surgeon to get a good final result. Patients are generally satisfied and can ambulate well after healing. In a resource-limited environment with cost as a barrier, if used correctly and judiciously, the unilateral external fixator can yield good results.

Cortical Atrophy, White Matter Lesions, and Bulb Configuration in Patients with Idiopathic Olfactory Loss and Other Causes of Olfactory Loss

Introduction: While magnetic resonance imaging (MRI) is not included in the current guidelines for diagnosing olfactory disorders in the most recent position paper on olfactory dysfunction, both 1.5T and 3T MRI are commonly used in the diagnostic workup of many patients with olfactory loss. Often, MRI is used to rule out intracranial tumours, but other useful information may be obtained from MRI scans in these patients. The potential of MRI in olfactory loss depends on sufficient knowledge of structural changes in different aetiologies of olfactory loss. We present common clinical MRI findings in olfactory loss and evaluate the usefulness of structural integrity scores in differentiating between aetiologies. Methods: In this study, we investigated if white matter hyperintensities (WMHs, measured by Fazekas score), global cortical atrophy (GCA), and medial temporal lobe atrophy (MTA) are more common in patients with idiopathic olfactory loss than in patients with acquired olfactory loss due to other aetiologies. Furthermore, we compared olfactory bulb (OB) configurations in different olfactory loss aetiologies. Results: In 88 patients with olfactory loss, WMHs, GCA, and MTA were not more significant findings on MRI in idiopathic olfactory loss (n = 51) compared with other causes of acquired olfactory loss (Fazekas score p = 0.2977; GCA score p = 0.6748; MTA score p = 0.7851). Bulb configurations differed in patients suffering from post-traumatic olfactory loss and may aid in identifying the underlying aetiology in patients where trauma is among the suspected causes of olfactory loss. Conclusion: We recommend that structural MRI with an OB sequence is included in the diagnostic evaluation of olfactory loss with suspected congenital and post-traumatic aetiology and should be considered in idiopathic olfactory loss with suspected central aetiology (e.g., tumour).

Sellar, suprasellar, and parasellar masses: Imaging features and neurosurgical approaches.

The sellar, suprasellar, and parasellar space contain a vast array of pathologies, including neoplastic, congenital, vascular, inflammatory, and infectious etiologies. Symptoms, if present, include a combination of headache, eye pain, ophthalmoplegia, visual field deficits, cranial neuropathy, and endocrine manifestations. A special focus is paid to key features on CT and MRI that can help in differentiating different pathologies. While most lesions ultimately require histopathologic evaluation, expert knowledge of skull base anatomy in combination with awareness of key imaging features can be useful in limiting the differential diagnosis and guiding management. Surgical techniques, including endoscopic endonasal and transcranial neurosurgical approaches are described in detail.

Evaluation of Pediatric Hydrocephalus: Clinical, Surgical, and Outcome Perspective in a Tertiary Center.

Context:Pediatric hydrocephalus (PH) results in significant clinical and psychosocial morbidity in pediatric population.Aims:The aims of the study are to evaluate clinical, surgical, and outcome perspective of PH patients of age <12 years.Settings and Design:This is a retrospective cohort study.Materials and Methods:This study includes 117 pediatric patients (age ≤12 years) of hydrocephalus due to various etiology admitted in our department between September 2018 and December 2020. Demographic profile, etiology, clinical presentation, management, complications and postoperative outcome characteristics were evaluated. Survival analysis was done with respect to etiology and age group.Statistical Analysis Used:P < 0.05 was considered statistically significant. Unpaired t-test and Chi-square test were used. Kaplan–Meier curve plotting and survival analysis were also done.Results:Male-to-female ratio was 1.3:1. Most frequent etiology of PH was postinfectious (35%). Posterior fossa pilocytic astrocytoma (34.2%) was the most common neoplastic etiology. Surgical procedure performed for PH was ventriculoperitoneal shunting (n = 103), Ommaya reservoir (n = 2) placement, and endoscopic third ventriculostomy (ETV) (n = 8). Mortality was significantly (P = 0.0139) more in patients of neoplastic etiology. Cognitive deficits and delayed developmental milestones were significantly (P < 0.05) more in congenital hydrocephalus etiology. There was a nonsignificant difference in survival between age groups (P = 0.1971). However, a significant survival difference was evident (P = 0.0098) for etiology.Conclusions:Disease-specific mortality is main cause of mortality in PH. Neoplastic etiology PH has poor survival when compared to others. Life-long routine controls are required to avoid future possible complications and enhance better rehabilitation of the child.

C9. An Extremely Rare Dual Congenital Disorder of The Heart: Aberrant Tendinous Chords with Tethering of The Tricuspid Leaflet Associated with Wolff-Parkinson-White Syndrome

Abstract Background Aberrant tendinous chords with tethering of the tricuspid leaflets is a rare congenital etiology of tricuspid regurgitation (TR), defined as abnormal insertion of tendinous cords at the clear zone of the tricuspid leaflet and connect to the endocardium instead of the papillary muscles. Wolff-Parkinson-White (WPW) syndrome defined as a congenital condition involving additional conductive cardiac tissue between the atria and the ventricles that provides a pathway for a reentrant tachycardia circuit. Ebstein's anomaly (EA) is the most commonly occurring congenital abnormality that caused TR associated with the WPW. Until now, there is no case report of aberrant tendinous chords with tethering of the tricuspid leaflets that associated with WPW. Case Illustration A 26-year-old female with history of recurrent palpitation she was given was referred to our hospital. Resting ECG revealed sinus rhythm with delta wave suggesting diagnostic of WPW. On physical examination we found loud systolic murmur on left lower sternal border. Echocardiography examination revealed dilated right atrial and right ventricle, severe tricuspid regurgitation with restricted septal TV caused by aberrant tendinous chords. No apical displacement of tricuspid leaflet &amp;gt;8 mm/m2 excluding the diagnosis of EA. Discussion Both WPW and aberrant tendinous chords with tethering of the tricuspid leaflet are rare congenital disorder of the heart. EA is most common congenital TR associated with WPW, there are rarely reported other congenital TR associated with WPW. This case illustrates extremely rare case where we found both WPW and Aberrant Tendinous Chords.

C9. An Extremely Rare Dual Congenital Disorder of The Heart: Aberrant Tendinous Chords with Tethering of The Tricuspid Leaflet Associated with Wolff-Parkinson-White Syndrome

Abstract Background Aberrant tendinous chords with tethering of the tricuspid leaflets is a rare congenital etiology of tricuspid regurgitation (TR), defined as abnormal insertion of tendinous cords at the clear zone of the tricuspid leaflet and connect to the endocardium instead of the papillary muscles. Wolff-Parkinson-White (WPW) syndrome defined as a congenital condition involving additional conductive cardiac tissue between the atria and the ventricles that provides a pathway for a reentrant tachycardia circuit. Ebstein's anomaly (EA) is the most commonly occurring congenital abnormality that caused TR associated with the WPW. Until now, there is no case report of aberrant tendinous chords with tethering of the tricuspid leaflets that associated with WPW. Case Illustration A 26-year-old female with history of recurrent palpitation she was given was referred to our hospital. Resting ECG revealed sinus rhythm with delta wave suggesting diagnostic of WPW. On physical examination we found loud systolic murmur on left lower sternal border. Echocardiography examination revealed dilated right atrial and right ventricle, severe tricuspid regurgitation with restricted septal TV caused by aberrant tendinous chords. No apical displacement of tricuspid leaflet &amp;gt;8 mm/m2 excluding the diagnosis of EA. Discussion Both WPW and aberrant tendinous chords with tethering of the tricuspid leaflet are rare congenital disorder of the heart. EA is most common congenital TR associated with WPW, there are rarely reported other congenital TR associated with WPW. This case illustrates extremely rare case where we found both WPW and Aberrant Tendinous Chords.

The Impact of Unplanned Return to the Operating Room on Health-related Quality of Life at the End of Growth-friendly Surgical Treatment for Early-onset Scoliosis.

Limiting complications, especially unplanned return to the operating room (UPROR), is a major focus in the surgical management of early-onset scoliosis (EOS). Although UPROR remains common in this population, its effect on long-term health-related quality of life (HRQoL) remains unclear. The purpose of this study was to investigate the association between UPROR and end-of-treatment HRQoL in EOS patients treated with growth-friendly instrumentation. Patients with EOS who underwent growth-friendly instrumentation at age less than 10 years from 1993 to 2018, and completed treatment, were identified in a multicenter EOS registry. UPROR events were recorded, and end-of-treatment (defined as skeletal maturity and/or definitive spinal fusion) HRQoL was assessed via the 24-item Early-Onset Scoliosis Questionnaire (EOSQ-24). A total of 825 patients were identified, and 325 patients (age at surgery: 6.4 y, follow-up: 8.1 y) had end-of-treatment HRQoL data necessary for our investigation. Overall, 129/325 (39.7%) patients experienced 264 UPROR events; the majority (54.2%) were implant-related. Aside from age and etiology, no other variables were determined to be confounders or effect modifiers. Congenital patients with UPROR had worse pain/discomfort by 10.4 points (P=0.057) and worse pulmonary function by 7.8 points (P=0.102) compared with non-UPROR patients adjusting for age. Neuromuscular patients with UPROR had worse pulmonary function by 10.1 points compared with non-UPROR patients adjusting for age (P=0.037). Idiopathic and syndromic patients with UPROR reported consistently worse domain scores than their non-UPROR counterparts, but smaller (<5-point) differences were seen. UPROR during growth-friendly surgical treatment for EOS is associated with worse HRQoL in all patients, but particularly in those with neuromuscular or congenital etiologies. Ongoing efforts to avoid UPROR are critical. Level II. This is a multicenter retrospective cohort study investigating the effect of UPROR on HRQoL (prognostic study).

Tachycardia and Anxiety in a 14-year-old Boy

Tachycardia and Anxiety in a 14-year-old Boy

Intrathoracic prosthesis in children in preventing post pneumonectomy syndrome: Its role in congenital single lung and post pneumonectomy situations

BackgroundPostpneumopnectomy syndrome (PPS) is an extreme rotation and malposition of mediastinum causing dynamic and symptomatic central airway compression, arisingafter pneumonectomy or more uncommonly, in congenital single lung physiology. Affected patients present with severe respiratory compromise. Intrathoracic prosthesis placement is an evolving technique in children that mitigate the effects of thoracic dead space. Research questionAssessment of clinical recovery and functional benefit in children undergoing placement of intrathoracic prosthesis following pneumonectomy or in congenital single lung situations. Study design and methodsRetrospective chart review of patients at Great Ormond Street Hospital from 2010 to 2020 was performed of all patients who underwent intrathoracic tissue expander placement. We summarize the outcomes of twenty four children, including those with both congenital and postpneumonectomy PPS etiology. Results24 Children who underwent placement of intrathoracic prosthesis for PPS in the study period with median age of 3.5 months and weight of 5 kg. Single lung etiology was congenital in 15 children (6 agenesis, 9 hypoplasia), and postpneumonectomy in 9 children. In seven patients, there was associated long segment tracheal stenosis. Pre operative ECMO was required in 2 patients, and pre operative ventilation was required in 12 patients all of whom had congenital single lung. Intrathoracic prosthesis placement was concurrent with intracardiac repair in 5 patients. There were no operative deaths, but one early postoperative death related to septicaemia. Median follow up was 75 months with 10 patients on continued respiratory support and 3 on nocturnal support with good quality of life. Two children needed reoperations for replacement of prosthesis. ConclusionThe use of tissue expanders is within the armamentarium of most plastic surgeons’ practice. We also therefore advocate for a collaborative team approach involving Plastic and Cardiothoracic Surgery for surgical treatment of these patients. This multidisciplinary strategy has improved management of this rare and debilitating condition of PPS, thereby offering significant improvements in general progress of these sick children having single lung physiology. Evidence is still lacking on functional outcomes in these children and further work is necessary to prove that this is indeed achievable.

Cataracte de l’enfant : aspects épidémiologiques, étiologiques, cliniques et thérapeutiques à l’hôpital gynéco-obstétrique et pédiatrique de Yaoundé

The number of blind children in the world is approximately 1.5 million, a large proportion of which is attributable to congenital cataracts. Our goal is to describe the epidemiological, etiological, clinical and therapeutic aspects of childhood cataracts at the Yaoundé Gyneco-Obstetrics and Pediatric Hospital (YGOPH). This is a retrospective, descriptive study of cataracts diagnosed in children under 16 years of age from January 2010 to December 2017. Variables analyzed were age, sex, reason for consultation, laterality and duration of symptoms, type of cataract and treatment administered. We collected 82 patient records. The sex ratio was 1.56. The most frequent age group was 0-4 years at 42.5% (34), and the mean age was 6.6 years (1 day-15 years). The main reasons for consultation were decreased visual acuity in 46.3% (37) and leukocoria in 37.5% (30). Cataracts were unilateral in 72% (59) of the cases. The most common onset of the cataracts was congenital (40.8%) (31), and traumatic cataracts accounted for 27.6% (21). Mature white cataracts accounted for 39% (32), predominantly congenital etiologies in 41.5% (34). Cataract surgery was performed in 33 eyes. Small incision cataract surgery was the most common technique at 51.5% (17). Pediatric cataracts are relatively rare. Identification of risk factors may help decrease their incidence.

Outcome of adult patients receiving parenteral support at home: 36 years’ experience at a tertiary referral centre

Patients with intestinal failure often need long-term home parenteral support (PS). We aimed to determine how the underlying diagnosis, complications and survival had changed over the last 36 years in the UK's largest IF centre. 978 adult home PS patient records were analysed from January 1979 until October 2016. The age, sex, underlying aetiology, complications and survival was compared over 5-year periods. Pre-1990 to 2011-2016, numbers increased from 29 to 451, the mean age of patients increased from 31±16.5 to 52±17.6 years. The percentage of patients with IF due to surgical complications increased (3.4%-28.8%, p<0.001)), while those with inflammatory bowel disease decreased (37.9%-22.6%, p<0.001). Complication of home PS reduced: catheter related blood stream infections (CRBSI) 71.4% to 42,2%, CVC thrombosis 34.5%-5.3%. Intestinal failure associated liver disease (IFLAD) 10.3%-1.8%. Patients with dysmotility, scleroderma and a congenital aetiology had the highest incidence of CRBSI and CVC Thrombosis. Overall survival was greater pre-1995 [HR 0.2-0.4 (p=0.02)] most likely associated with an increase in mean age. Survival for patients without malignancy was 90%, 66%, 55%, 45%, 33% and 25% at 1,5, 10, 15, 20 and 30 years respectively. Multivariate analysis demonstrated a relationship between survival and age of starting home PS; type of home PS; presence or absence of the colon in continuity; and underlying aetiology. Demand for home PS is increasing in particular for advanced malignancy, post-surgical complications and older more co-morbid patients. Complications of home PS are reducing over the last 30 years and 10-year survival for non-malignant aetiologies improving. Survival and changes in aetiology in intestinal failure.

Symptom: Unilateral Hearing Loss

Symptom: Unilateral Hearing Loss

English

BACKGROUND The tympanic cavity is susceptible to infection by viruses and bacteria through the Eustachian tube, thereby making ear pathologies and particularly middle ear inflammatory conditions a frequent reason to consult an otorhinolaryngologist. With the advent of High-Resolution Computed Tomography, diagnosis of the middle ear anatomy, pathology and its complications if any, could be made out with better precision by providing a direct visual window by providing minute structural details. The aim of the study was to assess temporal bone pathologies that could be evaluated by HRCT study of the temporal bone in a rural hospital based setup and correlate if possible with surgical/histopathological findings. METHODS The study was a retrospective study done in M.V.J Medical College and Research Hospital, Bangalore amongst 50 patients from February 2020 to January 2021 who underwent HRCT of the temporal bone and relevant statistics were drawn from these cases. After local examination, clinical evaluation and consent, CT scan was performed. Follow-up of patients was done for confirmation with operative and/or histopathological findings whenever possible. All the data obtained were recorded in a tabulated form and analysed on MS Excel. RESULTS Amongst 50 patients, infective aetiology was found to be the most common cause, of which chronic otomastoiditis was the most common, followed by chronic Cholesteatoma, otitis media, chronic mastoiditis, and otitis externa. Amongst the congenital aetiology, we had 1 case each of osteoma, facial nerve involvement, microtia and inner ear dysplasia. Amongst the traumatic cases, longitudinal type of fracture was the most common type, followed by transverse and mixed fractures with hemotympanum being the most common HRCT finding. CONCLUSIONS HRCT of the temporal bone helps in accurate assessment of infective, congenital, traumatic and neoplastic aetiologies and helps the otologist understand the disease's extent and aid in surgery. KEYWORDS High-Resolution Computed Tomography, HRCT, Temporal bone, Radiology

Congenital anterior radial head dislocation with valgus deformity: A case report

Congenital radial head dislocation is a rare anomaly of the pediatric musculoskeletal system. The most common type is posterior, with anterior and lateral dislocations being less common. Unilateral cases are even more uncommon and were earlier thought to be non-existent. Our case report describes a young girl with unilateral congenital anterior radial head dislocation with progressive development of cubitus valgus deformity, which is a very rare occurrence. On reviewing literature, only few such cases have been described. Our patient also had a history of developmental dysplasia of hip and a congenital intra-hepatic porto-systemic shunt, which in addition to the morphological appearances of the radial head and capitellum, suggested a congenital etiology.