scholarly journals Anesthesia in a Patient with Potocki–Lupski Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-3
Author(s):  
Songhyun Kim ◽  
Yunhee Lim ◽  
In-Jung Jun ◽  
Byunghoon Yoo ◽  
Kye-Min Kim
Keyword(s):  
Developmental Delay ◽  
Muscle Tone ◽  
Anesthetic Management ◽  
Oropharyngeal Dysphagia ◽  
Failure To Thrive ◽  
Chromosome 17 ◽  
Close Monitoring ◽  
Anesthetic Care ◽  
Behavioral Abnormalities ◽  
History Of

Introduction. Potocki–Lupski syndrome (PTLS) is a rare disease caused by the duplication of a small segment of chromosome 17 (17p11.2). The clinical presentation of this syndrome is quite variable and includes hypotonia, failure to thrive, oropharyngeal dysphagia, developmental delay, and behavioral abnormalities. In addition, congenital heart disease, sleep apnea, and mildly dysmorphic features are common and should be considered during anesthetic management. However, because of the rarity and newness of the syndrome, there are few reports on the anesthetic care of patients with PTLS. Case Report. We report a case of a 4-year-old girl diagnosed with this syndrome who underwent general anesthesia for exotropia surgery. The patient exhibited micrognathia; a mild decrease in muscle tone; and a developmental delay in motor, speech, and cognition. She had a history of swallowing incoordination and gastroesophageal reflux. No abnormalities were found on a preoperative echocardiography. A videolaryngoscope was used for tracheal intubation, and the state of neuromuscular blockade was monitored in addition to standard monitoring. Anesthesia was maintained with sevoflurane and remifentanil. The patient recovered without any adverse events. Conclusion. As PTLS patients may have several malformations, preanesthetic evaluation is important. Preoperative echocardiography and cardiologic consultations are required. It is desirable to prepare for the risk of difficult airway and pulmonary aspiration. Postoperatively, close monitoring is needed to prevent airway compromise.

Hearing and Neurodevelopmental Outcomes of Young Infants with Parechovirus-A and Enterovirus Meningitis: Cohort Study in Singapore Children and Literature Review

2020 ◽  
Author(s):  
Elis Yuexian Lee ◽  
Jessica Hui Yin Tan ◽  
Chew Thye Choong ◽  
Nancy Wen Sim Tee ◽  
Chia Yin Chong ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Oropharyngeal Dysphagia ◽  
Significant Risk ◽  
Developmental Outcomes ◽  
Autism Spectrum ◽  
Clinical Findings ◽  
Cortical Blindness ◽  
Speech Delay ◽  
Neurodevelopmental Outcomes ◽  
Young Infants

Abstract Parechovirus-A (PeV-A) and Enterovirus (EV) commonly cause childhood aseptic meningitis. Bacterial meningitis in children has been associated with devastating long-term sequelae. However, developmental outcomes are unclear in Parechovirus meningitis. This study aims to review the clinical findings and developmental outcomes of infants with PeV-A and EV meningitis. We performed a retrospective study of infants aged 90 days or younger being admitted to our hospital with PeV-A meningitis between November 2015 and July 2017, with positive cerebrospinal fluid (CSF) PeV-A PCR and negative blood and CSF bacterial cultures. Hearing and neurodevelopmental outcomes were compared with a previous cohort of infants aged 90 days or younger with EV meningitis admitted from January 2015 to December 2015. A total of 161 infants were included in our study, of which 68 infants (42.2%) had PeV-A meningitis and 93 infants (57.8%) had EV meningitis. We assessed their developmental outcome at 6 months, 1 year, and 2 years post-meningitis. At 2 years post-meningitis, three infants with PeV-A meningitis had developmental delay (5.5%), whereas none with EV meningitis had developmental delay. One patient had speech delay and autism spectrum disorder, while two had mild speech delay. When compared with our cohort of EV meningitis ≤90 days old, children with PeV-A meningitis ≤90 days old were more likely to have developmental delay 2 years post-meningitis (odds ratio 2.4, 95% confidence interval 2.0–3.0, p = 0.043). None of the patients with PeV-A or EV meningitis had sensorineural hearing loss or neurological sequelae, such as cortical blindness, oropharyngeal dysphagia, hydrocephalus, epilepsy, or cerebral palsy. Infants with PeV-A meningitis had a significant risk of developmental delay 2 years post-meningitis compared with those with EV meningitis. It is important to follow-up the developmental milestones of infants diagnosed with PeV-A meningitis for at least 2 years; and when they develop developmental delay, to ensure that they receive appropriate intervention.

Device Closure of Ventricular Septal Defect with Amplatzer Muscular Occluder: A Case Report

1970 ◽  
Vol 25 (3) ◽  
pp. 161-163
Author(s):  
Nurun Nahar Fatema ◽  
Mamunur Rahman ◽  
Mujubul Haque
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Failure To Thrive ◽  
Military Hospital ◽  
Device Closure ◽  
Residual Shunt ◽  
Muscular Ventricular Septal Defect ◽  
Cardiac Centre ◽  
History Of ◽  
Observation Period

A four year old girl was diagnosed as a case of mid muscular Ventricular Septal Defect (VSD) since early infancy. She had history of failure to thrive (FTT) and recurrent chest infection or pneumonia. As her pulmonary artery pressure was almost normal she was planned for device closure on elective basis once device and technology would be available in cardiac centre of combined Military Hospital (CMH) Dhaka. Finally it was done on 21st August 2005 and patient was discharged after 72 hours observation period. Echocardiography on next morning showed complete occlusion of defect with no residual shunt. (J Bangladesh Coll Phys Surg 2007; 25 : 161-163)

scholarly journals Gas-filled urachal abscess with a pinging sound in a heifer calf

2019 ◽  
Vol 64 (No. 8) ◽  
pp. 362-366 ◽  
Author(s):  
R Sato ◽  
K Yamada ◽  
Y Shinozuka ◽  
H Ochiai ◽  
K Onda
Keyword(s):  
Fistulous Tract ◽  
Failure To Thrive ◽  
Abdominal Distension ◽  
Intravenous Urography ◽  
University Hospital ◽  
Growth Depression ◽  
Poor Growth ◽  
History Of ◽  
Heifer Calf ◽  
Urachal Abscess

A 6-month-old crossbred of a Holstein and Japanese Black heifer calf weighing 95 kg presented with a history of intermittent abdominal distension and failure to thrive. The physical examination identified a pinging sound over the dorsal left flank. The abdominal radiography showed a huge gas-filled mass. The intravenous urography revealed no communication between the mass and the urinary bladder. Although the visual examination and palpation of the umbilicus did not reveal visible abnormalities, an umbilical disease was suspected because the animal exhibited poor growth, depression, and a hunched back posture. When the eschar adhering to the centre of the umbilicus was removed, the presence of a fistulous tract was revealed. The umbilical ultrasound examination revealed an intra-abdominal abscess and the fistulography demonstrated that the abscess communicated with the umbilicus. The abscess, compressing into the rumen, was observed by computed tomography. From these images, it was diagnosed as an umbilical cord remnant abscess and a definitive diagnosis of a urachal abscess was obtained by open abdominal surgery and the subsequent removal of the mass. The calf was discharged from the university hospital on day 14 after the operation. This case shows that a urachal abscess should be considered when a pinging sound is present, even if the animal exhibits no swelling or pain of the umbilicus.

scholarly journals P54 Development of ocular toxoplasmosis and panuveitis in a patient receiving infliximab for psoriatic arthritis

Rheumatology ◽  
2020 ◽  
Vol 59 (Supplement_2) ◽  
Author(s):  
Mariam Malik ◽  
Himashi Anver ◽  
Ernest Wong
Keyword(s):  
Psoriatic Arthritis ◽  
Past History ◽  
Acute Infection ◽  
Immunosuppressive Treatment ◽  
Ocular Toxoplasmosis ◽  
Close Monitoring ◽  
Horse Riding ◽  
Increased Risk ◽  
History Of ◽  
Acute Toxoplasmosis

Abstract Background Toxoplasma gondii is thought to infect up to a third of world’s population. Incidence rate of 0.4/100,000 has been calculated in Britain, culminating in a life-time risk of 18/100,000. Cats are primary hosts, but humans and warm-blooded animals can be infected by consumption of contaminated food/water. Although in most patients, it’s self-limiting, it can be devastating in immunosuppressed patients and may cause eye manifestations, cerebral abscesses or disseminated infection. Immunosuppressive therapies including treatment with biologics increases the risk and may also cause toxoplasmosis reactivation. Methods This is case of 57 year old lady with psoriatic arthritis. She has past history of congenital vision impairment in the left eye and is HLA B27 negative. She enjoyed horse-riding and had a pet dog. Initially she was started on methotrexate. Sulfasalazine was added later. Due to ongoing active disease, etanercept was used for 6 months, before being switched to cetrolizumab due to ineffectiveness. She had this for 5 months and then switched to infliximab, 3mg/kg, 8 weekly. In May 2019, she was seen by Ophthalmology for 2 weeks history of blurred vision and floaters in right eye. She was diagnosed to have panuveitis and had positive IgM for toxoplasma. Bloods revealed negative TB screen, HIV, Hep B&C, syphilis, lyme and anti-streptolysin antibody tests were negative. Infliximab levels were sub-therapeutic. She was commenced on 30mg prednisolone for possible inflammatory process secondary to seronegative arthropathy, but acute toxoplasmosis could not be excluded. Hence, she was started on azithromycin and had vitreous biopsy. Toxoplasma was detected in the sample, confirming acute infection. Methotrexate and infliximab were stopped. MRI head ruled out intracranial involvement. Following treatment of acute toxoplasmosis, adalimumab is now being considered for management of her inflammatory disease, with close monitoring by local infectious-disease team and specialist ophthalmology unit. Results This lady developed ocular toxoplasmosis and panuveitis, whilst on immunosuppression for psoriatic arthritis. She was a horse-rider and had exposure to dogs. Diagnosing toxoplasma in immunocompromised can be difficult. Isolation of T. gondii in tissue usually confirms diagnosis. Some forms of immunosuppressive treatment may be associated with increased risk of reactivation of toxoplasmosis but there is not much evidence to assess the relative risk of various therapies. Conclusion Ocular toxoplasmosis needs to be considered in patients receiving immunosupression and presenting with inflammatory eye symptoms. Management requires specialist input and close monitoring. Further research into diagnostic techniques, possibility of using prophylaxis in high-risk patients and management guidelines would be helpful. Disclosures M. Malik None. H. Anver None. E. Wong None.

Anesthetic management of a patient with a history of Batista procedure for dilated cardiomyopathy undergoing gastric surgery

2006 ◽  
Vol 20 (3) ◽  
pp. 227-230 ◽  
Author(s):  
Aki Honda ◽  
Tamie Arai ◽  
Maki Akiyama ◽  
Eriko Masuda ◽  
Mizuka Kobayashi ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Anesthetic Management ◽  
Gastric Surgery ◽  
History Of ◽  
Batista Procedure

scholarly journals Lipemia Retinalis in a Patient with Familial Hypertriglyceridemia

2020 ◽  
Vol 10 ◽  
pp. 64
Author(s):  
Patrick Wang ◽  
Eric K. Chin ◽  
David R. P. Almeida
Keyword(s):  
Vision Loss ◽  
Vascular Risk Factor ◽  
Vascular Lesions ◽  
Hypertensive Retinopathy ◽  
Close Monitoring ◽  
Blurred Vision ◽  
Risk Factor Management ◽  
History Of ◽  
High Comorbidity ◽  
Peripapillary Area

A 45-year-old female with a history of hypertension presented with complaints of intermittent vision loss and blurred vision. Clinical examination revealed diffuse retinal whitening in the peripapillary area with multiple visible emboli in the first- and second-order arteries. The patient’s retinal findings were keeping within features of lipemia retinalis, and serum lipids were ordered which returned a triglyceride level of 1504 mg/dL. The patient was referred to primary care for vascular risk factor management and potential genetic testing. Ocular signs of hypertriglyceridemia manifest as lipemia retinalis, characterized by white vascular lesions and retinal lipid infiltration. The high comorbidity of hypertriglyceridemia and hypertension may warrant close monitoring hypertensive complications such as hypertensive retinopathy.

scholarly journals Study of perinatal factors in children with developmental delay

2016 ◽  
Vol 4 (1) ◽  
pp. 182 ◽  
Author(s):  
Goli Sri Charan ◽  
Jayant Vagha
Keyword(s):  
Birth Weight ◽  
Developmental Delay ◽  
Gestational Age ◽  
Birth Asphyxia ◽  
Global Developmental Delay ◽  
Developmental Quotient ◽  
Birth History ◽  
History Of ◽  
Observational Descriptive Study ◽  
Birth Body Weight

Background: Birth history gives important information in children with developmental delay. Developmental challenge in children is an emerging problem across the globe, which is largely associated with improved neonatal survival. The present study highlights the importance of birth history in children with developmental delay in our hospital. The objective of this study was to study the perinatal events in children with developmental delay.Methods: Observational descriptive study was conducted on children between 6 months to 5 years who were admitted in Pediatric wards with suspected history of developmental delay. DDST II scale was performed on these children and children who failed on Denver II scale were recruited into the study. Birth history was noted in detail, if available, documentation of birth events was asked for and noted. Developmental history with developmental quotient (DQ), were noted in detail.Results: 135 children had developmental delay, 113 (83.70%) were born by vaginal delivery and 22 (16.30%) were born by caesarian section, 46 (34.18%) had no cry at birth and remaining 89 (65.92%) had normal cry at birth. 104 (77.04%) were born by term gestation and 31 (22.96%) were born preterm. Birth weight was normal in 78 (57.7%) children, LBW was seen 47 (34.81%) and 5 children each with VLBW and ELBW and 35 (25.93%) were IUGR. On comparing the children born gestational age and birth body weight with all four domains, there was no significant difference.Conclusions: Global developmental delay was more common in children born at preterm, low birth weight, IUGR and children who had birth asphyxia. Birth weight and gestational age did not significantly affect any particular domain of development. 

scholarly journals Total Hip Arthroplasty for the Paralytic and Non-paralytic Side in Patient with Residual Poliomyelitis

2016 ◽  
Vol 10 (1) ◽  
pp. 105-110 ◽  
Author(s):  
Motoki Sonohata ◽  
Masaru Kitajima ◽  
Shunsuke Kawano ◽  
Masaaki Mawatari
Keyword(s):  
Muscle Strength ◽  
Total Hip Arthroplasty ◽  
Hip Joint ◽  
Hip Arthroplasty ◽  
Muscle Tone ◽  
Hip Osteoarthritis ◽  
Hip Pain ◽  
Total Hip ◽  
Early Results ◽  
History Of

Background: Total hip arthroplasty (THA) for poliomyelitis is a problematic procedure due to difficulty in positioning the cup of the prosthesis in the true acetabulum and the risk of dislocation after THA due to the low muscle tone. Methods: We herein present a case of bilateral hip pain with a history of poliomyelitis. Radiograph showed bilateral hip osteoarthritis caused by hip dysplasia due to residual poliomyelitis in right hip joint or developing dysplasia of the hip joint in left hip joint. THA was performed to bilateral hip joints. Results: Six years after bilateral THA, bilateral hip pain significantly improved. Additionally, the muscle strength on the paralyzed right side partially improved. However, the muscle strength on the non-paralyzed left side did not significantly improve. No complications related to the surgery were observed. Conclusion: Promising early results were obtained for THA in our patient with residual poliomyelitis. However, surgeons should pay attention to the potential development of complications concerning THA that may arise due to the residual poliomyelitis.

scholarly journals Clinical evaluation of oropharyngeal dysphagia in Machado-Joseph disease

2010 ◽  
Vol 47 (4) ◽  
pp. 334-338 ◽  
Author(s):  
Sabrina Mello Alves Corrêa ◽  
Valter Nilton Felix ◽  
Jonas Lírio Gurgel ◽  
Rubens A. A Sallum ◽  
Ivan Cecconello
Keyword(s):  
Clinical Evaluation ◽  
Clinical Characteristics ◽  
Oropharyngeal Dysphagia ◽  
Neurological Manifestations ◽  
Severity Scale ◽  
Pharyngeal Phase ◽  
History Of ◽  
Machado Joseph Disease ◽  
Dysphagic Patients

CONTEXT: In Machado-Joseph disease, poor posture, dystonia and peripheral neuropathy are extremely predisposing to oropharyngeal dysphagia, which is more commonly associated with muscular dystrophy. OBJECTIVE: To evaluate the clinical characteristics of oropharyngeal dysphagia in Machado-Joseph disease patients. METHOD: Forty individuals participated in this study, including 20 with no clinical complaints and 20 dysphagic patients with Machado-Joseph disease of clinical type 1, who were all similar in terms of gender distribution, average age, and cognitive function. The medical history of each patient was reviewed and each subject underwent a clinical evaluation of deglutition. At the end, the profile of dysphagia in patients with Machado-Joseph disease was classified according to the Severity Scale of Dysphagia, as described by O'Neil and collaborators. RESULTS: Comparison between dysphagic patients and controls did not reveal many significant differences with respect to the clinical evaluation of the oral phase of deglutition, since afflicted patients only demonstrated deficits related to the protrusion, retraction and tonus of the tongue. However, several significant differences were observed with respect to the pharyngeal phase. Dysphagic patients presented pharyngeal stasis during deglutition of liquids and solids, accompanied by coughing and/or choking as well as penetration and/or aspiration; these signs were absent in the controls. CONCLUSIONS: Oropharyngeal dysphagia is part of the Machado-Joseph disease since the first neurological manifestations. There is greater involvement of the pharyngeal phase, in relation to oral phase of the deglutition. The dysphagia of these patients is classified between mild and moderate.

When Developmental Delay and Failure to Thrive Are Not Psychosocial

2015 ◽  
Vol 6 (1) ◽  
pp. 47-49
Author(s):  
G. J. Prutsky ◽  
E. B. Olivera ◽  
K. Bittar
Keyword(s):  
Developmental Delay ◽  
Failure To Thrive
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