Neurodevelopmental Profile in Children Affected by Ocular Albinism

2021 ◽  
Author(s):  
Jessica Galli ◽  
Erika Loi ◽  
Alessandra Morandi ◽  
Vera Scaglioni ◽  
Andrea Rossi ◽  
...  
Keyword(s):  
Neurological Examination ◽  
Case Series ◽  
Signs And Symptoms ◽  
Preschool Age ◽  
Gene Analysis ◽  
Ocular Albinism ◽  
Hand Eye Coordination ◽  
Mild Impairment ◽  
Variable Combination ◽  
Neuromotor Development

Abstract Aim The aim of this study was to detail the neurodevelopmental profile of subjects affected by ocular albinism (OA) and to collect data on GPR143 gene analysis. Design The design of the study involves a retrospective longitudinal observational case series. Methods We collected data on the neurodevelopmental profile of 13 children affected by OA from clinical annual assessments conducted for a period of 6 years after the first evaluation. We described visual profile, neuromotor development and neurological examination, cognitive profile, communication and language skills and behavioral characteristics. The GPR143 gene analysis was performed as well. Results Children presented a variable combination of ocular and oculomotor disorders unchanged during the follow-up, a deficit in visual acuity and in contrast sensitivity that progressively improved. Abnormalities in pattern visual evoked potential were found. No deficits were detected at neurological examination and neuromotor development except for a mild impairment in hand-eye coordination observed in five cases. A language delay was observed in five cases, two of whom had also a developmental quotient delay at 2 years evolving to a borderline/deficit cognitive level at preschool age, difficulties in adaptive behavior and autistic-like features were found. Mutations in the GPR143 gene were identified in the two patients who presented the most severe clinical phenotype. Conclusion Children with OA may share, in addition to a variable combination of ocular signs and symptoms, a neurodevelopment impairment regarding mostly the cognitive, communicative, and social area, especially those with GPR143 mutation.

scholarly journals Cutaneous manifestations of COVID-19 in Mexican patients: A case series and review of literature

2021 ◽  
Vol 9 ◽  
pp. 2050313X2199719
Author(s):  
Juan Carlos Palomo-Pérez ◽  
Maria Elisa Vega-Memije ◽  
David Aguilar-Blancas ◽  
Erik González-Martínez ◽  
Lucia Rangel-Gamboa
Keyword(s):  
Respiratory Symptoms ◽  
Case Series ◽  
Signs And Symptoms ◽  
Skin Lesions ◽  
World Health ◽  
Medical Community ◽  
Atypical Pneumonia ◽  
Cutaneous Lesions ◽  
Cutaneous Manifestations ◽  
Mexican Patients

China officially recognized atypical pneumonia outbreak in December 2019; on 11 March 2020, the World Health Organization declared COVID-19 as a pandemic that is produced by a new coronavirus, named SARS-CoV-2, of rapid transmissibility, which can be asymptomatic, with mild to severe respiratory symptoms, and with cardiovascular, neurological, gastrointestinal, and cutaneous complications. Considering that the pandemic prolonged more than initially expected was prognostic, it is essential for the medical community to identify the signs and symptoms of COVID-19. Thus, this work’s objectives were to present cases of cutaneous lesions observed in COVID-19 Mexican patients. We register cutaneous lesions in COVID-19 patients referred from internal medicine and otorhinolaryngology services to dermatology. We presented four interesting cases with cutaneous lesions, including exanthema morbilliform, urticaria, chilblains, ecchymosis, and facial edema, and review the available literature. The most frequent cutaneous markers are rash, chilblains, and urticaria. Skin lesions may be the first manifestation of COVID-19, accompany initial respiratory symptoms, or appear during the disease course. Symptoms associated with vascular changes (livedo reticularis and vasculitis) are considered of poor prognosis.

Exercise-Induced Scalenus Syndrome

2008 ◽  
Vol 36 (2) ◽  
pp. 369-374 ◽  
Author(s):  
Panagiotis Baltopoulos ◽  
Charalampos Tsintzos ◽  
George Prionas ◽  
Maria Tsironi
Keyword(s):  
Quality Of Life ◽  
Thoracic Outlet Syndrome ◽  
Surgical Intervention ◽  
Case Series ◽  
Signs And Symptoms ◽  
Underlying Mechanism ◽  
Level Of Evidence ◽  
Full Activity ◽  
Exercise Induced

Background Thoracic outlet syndrome is described as a group of distinct disorders producing signs and symptoms attributed to compression of nerves and blood vessels in the thoracic outlet region. Purpose To describe the exercise-induced scalenus anticus syndrome attributed to the anterior scalenus hypertrophy as a thoracic outlet syndrome underlying mechanism and to give recommendations for a safe and effective surgical treatment. Study Design Case series; Level of evidence, 4. Methods Twelve young professional athletes admitted for thoracic outlet syndrome (8 cases of neurologic thoracic outlet syndrome, 4 cases of mixed neurologic and vascular thoracic outlet syndrome) who reported numbness, tingling, early fatigue, muscle weakness, and pain were enrolled in the study. Scalenus hypertrophy was suspected to be the causative factor. Scalenectomy was performed in all cases. Results All patients had moderate to severe hypertrophy of the anterior scalenus muscle. Scalenectomy was performed, and there were no intraoperative or postoperative complications. Full activity was quickly achieved, and no recurrence of symptoms was documented. Conclusion Surgical intervention for scalenus anticus syndrome can allow an athlete to return to full activity and improve quality of life. Surgical intervention seems to be the treatment of choice in terms of restoring quality of life and physical activity.

scholarly journals Foreign Body Aspiration in Infants and Older Children: A Comparative Study

2019 ◽  
Vol 99 (1) ◽  
pp. 47-51 ◽  
Author(s):  
Shorook Na’ara ◽  
Igor Vainer ◽  
Moran Amit ◽  
Arie Gordin
Keyword(s):  
Foreign Body ◽  
Medical Center ◽  
Age Groups ◽  
Signs And Symptoms ◽  
Foreign Body Aspiration ◽  
Preschool Age ◽  
Small Airways ◽  
Older Children ◽  
X Ray ◽  
Young Infants

Background: Foreign body aspiration (FBA) is a major cause of morbidity and mortality in children. It is a preventable event that predominates in preschool age. The signs and symptoms mimic respiratory diseases common in the same age-group. We compared FBA in infants to FBA in older children. Methods: Retrospective analysis of all the cases of suspected FBA of children under the age of 18 years hospitalized at one medical center during 2002 to 2016. We analyzed the data according to age: up to 1 year (infants) and 1 to 18 years. Results: One hundred seventy-five children with suspected FBA were admitted; of whom, 27 (15%) were infants and 148 (85%) were older children (age 1-18 years). For the 2 age groups, adults witnessed 85% and 73%, respectively, of the incidents ( P = .4). In the neonate group, 48% presented with normal X-ray findings compared to only 20% in the older group; 15% of the older group had a positive chest X-ray for a foreign body, while none had such in the infants’ group ( P = .01). For the 2 age groups, the majority of the FBs found were from organic origin. About half of the patients were diagnosed and managed within 24 hours of the aspiration event. In 10%, repeated bronchoscopy was performed due to a retained FB remnant. In a multivariate analysis, signs and symptoms ( P < .05), location of the FB ( P < .001), and witnessed aspiration ( P < .001) were independent prognostic factors for the length of hospitalization. Conclusion: Foreign body aspiration is not uncommon in young infants; the management is challenging due to small airways, the need to use smaller bronchoscopes, and the lack of working channel forces in pediatric bronchoscopes.

scholarly journals Extraoral Sinus Tracts of Odontogenic Origin: A Case Series

2020 ◽  
Author(s):  
Ellahe Azizlou ◽  
Mohsen AminSobhani ◽  
Sholeh Ghabraei ◽  
Mehrfam Khoshkhounejad ◽  
Abdollah Ghorbanzadeh ◽  
...  
Keyword(s):  
Correct Diagnosis ◽  
Case Series ◽  
Signs And Symptoms ◽  
Complete Recovery ◽  
Cutaneous Lesions ◽  
Odontogenic Origin ◽  
The Face ◽  
History Of ◽  
Relationship Of ◽  
Dental Infections

Extraoral sinus tracts of odontogenic origin often develop as the result of misdiagnosis of persistent dental infections due to trauma, caries, or periodontal disease. Due to these lesions' imitation from cutaneous lesions, misdiagnosis, and mismanagement, which we frequently encounter, this article aims to describe four cases with manifestations in different parts of the face and the neck. Patients were referred to an endodontist with a history of several surgical procedures and/or antibiotic therapy due to misdiagnosis. After comprehensive examinations, root canal treatment was performed. The resolution of signs and symptoms during the follow-up period confirmed the correct diagnosis. Dermatologists and other physicians should be aware of the possibility of the relationship of extraoral sinus tracts with dental infections. Precise examination and taking a comprehensive history can aid to prevent unnecessary and incorrect therapeutic and/or pharmaceutical interventions. Elimination of dental infection leads to complete recovery in such patients.

scholarly journals P154 DOES A PENO-SCROTAL APPROACH FOR PENILE PROSTHESIS IMPLANTATION INCREASE THE INCIDENCE OF INGUINAL HERNIAS POSTOPERATIVELY?

2021 ◽  
Vol 108 (Supplement_8) ◽  
Author(s):  
Shadi Al-Bahri ◽  
Hazem Taifour
Keyword(s):  
Risk Factors ◽  
Inguinal Hernia ◽  
Case Series ◽  
Penile Prosthesis ◽  
Signs And Symptoms ◽  
General Surgeon ◽  
Direct Inguinal Hernia ◽  
Prosthesis Implantation ◽  
Radiologic Imaging ◽  
History Of

Abstract Aim The incidence of direct inguinal hernia and reservoir migration post-penile prosthesis implantation is extremely rare. We present a case series of patients presenting with direct inguinal hernia following three-piece penile prosthesis implantation. Material and Methods Three patients presented with direct inguinal hernia shortly following penile prosthesis implantation for treatment of refractory erectile dysfunction due to venous leak that was confirmed on ultrasound imaging. All patients underwent standard open Lichtenstein tension free repair. Results All patients underwent penile prosthesis Implantation through a peno-scrotal approach in which the reservoir was placed in the space of Retzius. The first patient had reservoir displacement one day post-operatively presenting as an inguinal bulge and discomfort, and repaired the same day. The other two patients presented with symptoms of inguinal swelling and pain at 40 days and 8 months respectively. None of our patients had signs and symptoms of intestinal obstruction. Identifiable risk factors included high BMI and a history of smoking, however dissection and placement of the reservoir may play a role in weakening the floor of the inguinal canal. Conclusions Despite the rare incidence of inguinal hernia post-penile prosthesis implantation, identification of patients with risk factors for inguinal hernia development should be done preoperatively. This may be evaluated through preoperative radiologic imaging with an abdominal wall ultrasound or clinical examination by a general surgeon.

scholarly journals Traumatic bone cyst of mandible: a case series

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Farnoosh Razmara ◽  
Zahra Ghoncheh ◽  
Ghazal Shabankare
Keyword(s):  
Bone Cyst ◽  
Clinical Signs ◽  
Case Series ◽  
Signs And Symptoms ◽  
Radiographic Examination ◽  
Radiographic Evaluation ◽  
History Of ◽  
Mandibular Region ◽  
Clinical Signs And Symptoms ◽  
Anterior Mandible

Abstract Background A traumatic bone cyst is an uncommon nonneoplastic lesion of the jaws that is considered as a “pseudocyst” because of the lack of an epithelial lining. This lesion is particularly asymptomatic and therefore is diagnosed by routine dental radiographic examination as a unilocular radiolucency with scalloped borders, mainly in the posterior mandibular region. The exact etiopathogenesis of the lesion remains uncertain, though it is often associated with trauma. Case presentation We report three Persian cases of traumatic bone cyst with different clinical and radiographic features, and we present a review of the literature to further discuss diagnostic and treatment challenges. Only one of the three patients reported a history of trauma, and despite the usual signs and symptoms of the lesion, extension of the defect to the ramus, swelling of the lingual cortex, and their unusual presence in the anterior mandible were noted in these patients. Conclusions Because features of this cyst can be varied, careful history taking and radiographic evaluation alongside the clinical signs and symptoms have a very significant role in definitive diagnosis, appropriate treatment, and accurate assessment of prognosis.

Mycobacterial Infections of the Hand

Hand ◽  
2020 ◽  
pp. 155894472094006
Author(s):  
Vivek K. Bilolikar ◽  
Asif M. Ilyas
Keyword(s):  
Case Reports ◽  
Case Series ◽  
Signs And Symptoms ◽  
Joint Space ◽  
Cutaneous Infections ◽  
Mycobacterial Infections ◽  
Resistant Tuberculosis ◽  
Resistance Patterns ◽  
New Diagnosis ◽  
Resistance Rates

Background Hand infections caused by mycobacteria are relatively uncommon compared to infections caused by other pathogens; therefore, much of the available literature consists of case reports and limited case series. Broadly categorized into tuberculous and nontuberculous mycobacterial (NTM) infections, both tuberculous and NTM infections are typically insidious with long incubation periods and with the ability to remain dormant for prolonged periods. Methods We reviewed the most current literature on the epidemiology, presentations, treatment methods, and resistance patterns of mycobacterial infections of the hand focusing on the indications and outcomes of nonoperative as well as operative interventions. Results The worldwide burden of tuberculosis remains high and while the overall rate of new diagnosis drug resistant tuberculosis has been on the decline some regions of the world have demonstrated staggeringly high resistance rates to first-line tuberculosis therapies. Signs and symptoms of mycobacterial hand infection are typically inconsistent, and highly dependent on the specific structures of the hand that are affected; therefore, these infections may mimic other infections of the hand like tenosynovitis, joint space infections, and cutaneous infections. The main stay of treatment remains antimycobacterial therapies including but not limited to rifampin, isoniazid, pyrazinamide, and ethambutol. Conclusions The complications associated with mycobacterial hand infections can be significant. Prompt evaluation, including a thorough history to evaluate for potential exposures to infectious sources, followed by appropriate antibiotic choice and duration, with surgical management as needed, is key to reducing the chance that patients experience lasting effects of the infection.

scholarly journals Easily Missed: A Case Series of New Heart Failure in Young Adults

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Eric J. Hall ◽  
Jonathan Menachem ◽  
Lynne Warner Stevenson ◽  
Jessica Huston
Keyword(s):  
Heart Failure ◽  
Young Adults ◽  
Patient Population ◽  
Case Series ◽  
Signs And Symptoms ◽  
Artery Dissection ◽  
Coronary Artery Dissection ◽  
Familial Cardiomyopathy ◽  
New Diagnosis ◽  
High Index Of Suspicion

Background. While uncommon, heart failure (HF) can present in young adults from a variety of causes. Identifying HF in a young patient presents many challenges, the foremost of which is recognition of the signs and symptoms of HF. Case Summary. We present four cases of new diagnosis of HF (due to familial cardiomyopathy, tachycardia-induced cardiomyopathy, spontaneous coronary artery dissection, and peripartum cardiomyopathy) to highlight the range of etiologies and presentations requiring recognition in this patient population. Discussion. A high index of suspicion is needed to diagnose HF in young adults, who may not present with classic signs and symptoms. Young adults represent a unique patient population that differs from the older patients with HF. Young adults with newly diagnosed HF should be promptly referred to a center offering full diagnostic capabilities and advanced cardiac therapies.

Intradural spinal arachnoid cyst resection: implications of duraplasty in a large case series

2018 ◽  
Vol 28 (5) ◽  
pp. 548-554
Author(s):  
Ziev B. Moses ◽  
Gabriel N. Friedman ◽  
David L. Penn ◽  
Isaac H. Solomon ◽  
John H. Chi
Keyword(s):  
Case Series ◽  
Signs And Symptoms ◽  
Symptom Improvement ◽  
Preoperative Pain ◽  
Lumbosacral Region ◽  
Duration Of Symptoms ◽  
Large Patient ◽  
Large Case Series ◽  
Pain Symptoms ◽  
Large Case

OBJECTIVEOptimal diagnosis and management strategies for intradural spinal arachnoid cysts (SACs) are still unresolved given the rare nature of this entity, with few large case series and virtually no statistical analyses of patient characteristics in the literature. Here, the authors studied a large patient cohort with these lesions to determine whether pre- or postoperative attributes could be used to aid in either diagnosis or prognosis.METHODSA chart review was completed at a single institution for the period from 2002 to 2016 to determine the preoperative characteristics and postoperative outcomes of 21 patients with exclusively intradural SACs. Patients were assessed for symptoms such as weakness, pain, sensory changes, bowel and/or bladder dysfunction, and gait changes. Postoperatively, patients were analyzed for symptom improvement, complication occurrence, and duration of follow-up.RESULTSApproximately two-thirds of the patients in this series had developed SACs idiopathically, and the mean duration of symptoms prior to diagnosis was 15 months among all patients. A slight majority (57%) underwent CT myelography in the course of diagnosis, and a quarter of the patients had a syrinx. There was a statistically significant association between location of the SAC and number of presenting signs and symptoms; that is, patients with cysts in the lumbosacral region had more symptoms than those with cysts at the cervical or thoracic levels (p = 0.031). Overall, outcomes were largely positive, with approximately 60%–70% of patients experiencing postoperative improvement in symptoms, with motor weakness showing the highest response rate (71%) and pain symptoms the least likely to subside (50%). In the cohort with preoperative pain, those who had undergone expansile duraplasty were significantly more likely to experience relief of their pain symptoms (p = 0.028), which may have been a result of the superior restoration of cerebrospinal fluid pathways allowing for more adequate reduction in compression.CONCLUSIONSIn this large case series on intradural SACs, new light has been shed on aspects of both pre- and postoperative care for patients with these rare lesions. Specifically, the authors revealed that lumbosacral intradural SACs may be associated with a higher disease burden and that patients who undergo expansile duraplasty may have an increased likelihood of experiencing postoperative pain relief.

Orbital relapse in children treated for Pre-B ALL, a retrospective case series

2020 ◽  
pp. 1-7
Author(s):  
Komal Seher ◽  
Saadiya Javed Khan
Keyword(s):  
Central Nervous System ◽  
Bone Marrow ◽  
Cerebrospinal Fluid ◽  
Nervous System ◽  
Case Series ◽  
Signs And Symptoms ◽  
Ocular Tissue ◽  
Cell Leukaemia ◽  
Retrospective Case ◽  
Ocular Lesions

Abstract About 85-90% of children with B-cell leukaemia are cured. If relapse occurs it is usually in the bone marrow (BM), followed by extramedullary sites. Ocular lesions occur secondary to the accumulation of circulating blasts in the uvea, optic disc, intra-ocular tissue as well as fluid. Here we report four patients with ocular complaints that led to the diagnosis of relapse. Among 475 children with leukaemia treated from January 2013 to December 2018, 50 (10.5%) patients relapsed. Four (8%) out of these 50 presented with orbital symptoms. Central Nervous System (CNS) evaluation by cerebrospinal fluid (CSF) was negative at relapse. Relapse was treated with chemotherapy R3 protocol. Three (75%) patients are alive, while the fourth patient had a second BM relapse and died. Ophthalmic signs and symptoms in patients with treated leukaemia warrant a thorough evaluation. Continuous...  

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