scholarly journals A Newborn with Athrogryposis Multiplex Congenital (AMC): A Case Report

2018 ◽  
pp. 1-6
Author(s):  
Simon Pius ◽  
Hauwa Yusuf Musa ◽  
Yenti Machoko ◽  
Mustapha Bello
Keyword(s):  
Case Report ◽  
Environmental Factors ◽  
Fibrous Tissue ◽  
Duodenal Atresia ◽  
Lower Limbs ◽  
Arthrogryposis Multiplex Congenita ◽  
Upper Limbs ◽  
Live Births ◽  
Genetic And Environmental Factors

Arthrogryposis multiplex congenita (AMC) is constellation of contractions of multiple joints present at birth with fat or fibrous tissue partially or totally replacing muscles. Aetiological cause is from the interplay of genetic and environmental factors. It affects approximately 1 in 2-3000 live births. All four extremities are involved in50-60% of cases; lower limbs, in 30-40%, and upper limbs, in 10-15% of cases. Our patient is case of Amyoplasia with duodenal atresia. Had surgery and was seen in the clinic on follow up to 3 months. He has remain stable on physiotherapy.

Congenital Syphilis Simulating Bone Neoplasm in 2-Month Old Infant – Case Report

2017 ◽  
Vol 2 (1) ◽  
Keyword(s):  
Case Report ◽  
Congenital Syphilis ◽  
Eosinophilic Granuloma ◽  
Osteolytic Lesion ◽  
Lower Limbs ◽  
Upper Body ◽  
Elective Cesarean Section ◽  
Distal Fibula ◽  
X Ray

Introduction: Congenital Syphilis (CS) occurs through the transplacental transmission of Treponema pallidum in inadequately treated or non-treated pregnant women, and is capable of severe consequences such as miscarriage, preterm birth, congenital disease and/or neonatal death. CS has been showing an increasing incidence worldwide, with an increase of 208% from 2009 to 2015 in Brazil. Case report: 2-month old infant receives care in emergency service due to edema of right lower limb with pain in mobilization. X-ray with osteolytic lesion in distal fibula. Infant was sent to the Pediatrics Oncology clinic. Perinatal data: 7 prenatal appointments, negative serology at 10 and 30 weeks of gestation. End of pregnancy tests were not examined and tests for mother’s hospital admission were not requested. Mother undergone elective cesarean section at 38 weeks without complications. During the pediatric oncologist appointment, patient showed erythematous-squamous lesions in neck and other scar-like lesions in upper body. A new X-ray of lower limbs showed lesions in right fibula with periosteal reaction associated with aggressive osteolytic lesion compromising distal diaphysis, with cortical bone rupture and signs of pathological fracture, suggestive of eosinophilic granuloma. She was hospitalized for a lesion biopsy. Laboratory tests: hematocrit: 23.1 / hemoglobin 7.7 / leukocytes 10,130 (without left deviation) / platelets 638,000 / Negative Cytomegalovirus IgG and IgM and Toxoplasmosis IgG and IgM / VDRL 1:128. Congenital syphilis diagnosis with skin lesions, bone alterations and anemia. Lumbar puncture: glucose 55 / total proteins 26 / VDRL non reagent / 13 leukocytes (8% neutrophils; 84% monomorphonuclear; 8% macrophages) and 160 erythrocytes / negative VDRL and culture. X-ray of other long bones, ophthalmological evaluation and abdominal ultrasound without alterations. Patient was hospitalized for 14 days for treatment with Ceftriaxone 100mg/kg/day, due to the lack of Crystalline Penicillin in the hospital. She is now under outpatient follow-up. Discussion: CS is responsible for high rates of morbidity and mortality. The ongoing increase of cases of this pathology reflects a severe health issue and indicates failures in policies for the prevention of sexually transmitted diseases, with inadequate follow-up of prenatal and maternity protocols.

scholarly journals Genetic and Environmental Influences on Smoking Behavior across Adolescence and Young Adulthood in the Virginia Twin Study of Adolescent Behavioral Development and the Transitions to Substance Abuse Follow-Up

2015 ◽  
Vol 18 (1) ◽  
pp. 43-51 ◽  
Author(s):  
Elizabeth K. Do ◽  
Elizabeth C. Prom-Wormley ◽  
Lindon J. Eaves ◽  
Judy L. Silberg ◽  
Donna R. Miles ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Young Adulthood ◽  
Twin Study ◽  
Smoking Behavior ◽  
Smoking Initiation ◽  
Study Results ◽  
Adolescence And Young Adulthood ◽  
Genetic And Environmental Factors ◽  
The Relationship

Little is known regarding the underlying relationship between smoking initiation and current quantity smoked during adolescence into young adulthood. It is possible that the influences of genetic and environmental factors on this relationship vary across sex and age. To investigate this further, the current study applied a common causal contingency model to data from a Virginia-based twin study to determine: (1) if the same genetic and environmental factors are contributing to smoking initiation and current quantity smoked; (2) whether the magnitude of genetic and environmental factor contributions are the same across adolescence and young adulthood; and (3) if qualitative and quantitative differences in the sources of variance between males and females exist. Study results found no qualitative or quantitative sex differences in the relationship between smoking initiation and current quantity smoked, though relative contributions of genetic and environmental factors changed across adolescence and young adulthood. More specifically, smoking initiation and current quantity smoked remain separate constructs until young adulthood, when liabilities are correlated. Smoking initiation is explained by genetic, shared, and unique environmental factors in early adolescence and by genetic and unique environmental factors in young adulthood; while current quantity smoked is explained by shared environmental and unique environmental factors until young adulthood, when genetic and unique environmental factors play a larger role.

scholarly journals MANAGEMENT OF THROMBOANGIITIS OBLITERANS - A CASE REPORT

2021 ◽  
Vol 9 (7) ◽  
pp. 1560-1563
Author(s):  
Vishal Chougule ◽  
Shailesh Shetty
Keyword(s):  
Case Report ◽  
Strong Association ◽  
Complete Healing ◽  
Lower Limbs ◽  
Thromboangiitis Obliterans ◽  
Foul Smell ◽  
Treatment Principle ◽  
The Right ◽  
Time Of Admission

Thromboangitis obliterans (TAOs) is a rare disease affecting arteries and veins of the upper and lower limbs. The condition has a strong association with the use of tobacco. Thromboangitis obliterans also known as Buerger's disease is found in the age group between 40 to 45 years, and men are most prone to get affected. The present case is a male aged 65 years complaining of a wound on the heel on the right foot, associated with pain, discharge, slough, foul smell, edema and discolouration of the skin for which he visited our hospital, the patient was previ- ously diagnosed as TAO, considering his clinical features at the time of admission, an intervention was planned based on the treatment principle of Dusta Vrana like Virechana, Basti and Raktamokshana. There was complete healing of the wound at the end of the treatment with no signs of recurrence during the follow-up suggesting the need for Shodhana in the effective management of TAO. Keywords: Dushta Vrana, Thromboangiitis Obliterans, Ayurveda, Panchakarma, Shodhana, Case report

Distal-type cervical spondylotic amyotrophy: incidence and outcome after central corpectomy

2009 ◽  
Vol 10 (4) ◽  
pp. 374-379 ◽  
Author(s):  
Nooti Venkata Srinivasa Rao ◽  
Vedantam Rajshekhar
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Cord Compression ◽  
Lower Limbs ◽  
Upper Limbs ◽  
Rare Form ◽  
Japanese Orthopedic Association ◽  
Cervical Spondylotic Amyotrophy ◽  
Male Patients

Object Distal-type cervical spondylotic amyotrophy (CSA) is a rare form of cervical spondylotic myelopathy (CSM). The authors documented the incidence, clinical presentation, radiological features, and outcome following central corpectomy (CC) in patients with this entity. Methods The authors performed a retrospective institutional database search of patients who underwent decompressive surgery for CSM between 1992 and 2006 to identify patients with distal-type CSA. Distal-type CSA was defined as weakness and wasting of hands and forearms without gait impairment (Nurick Grades 0 and 1) nor any sensory symptoms or signs in the lower limbs. Results The authors identified 7 male patients (1.1%) with distal-type CSA from among 653 patients who underwent either cervical laminectomy (135 patients) or CC (518 patients). There were sensory symptoms or signs in the upper limbs in all but 1 of the patients. Increased signal intensity in the cord was demonstrated on T2-weighted MR images in all patients. The compression was mainly at the C-6 vertebral level. At a mean follow-up of 46.5 months (range 12–98 months), 6 patients had improved by a mean patient perceived outcome score of 66.7% (range 20–100%). Patients' modified Japanese Orthopedic Association scores improved from a preoperative mean (± SD) of 16.1 ± 0.7, to a follow-up mean of 17.4 ± 0.5 (p = 0.004, paired t-test). One patient whose condition worsened 7 months after CC received a diagnosis of a coexistent motor neuron disease. Conclusions Distal-type CSA is a rare form of CSM that should be differentiated from motor neuron disease on the basis of subtle sensory symptoms or signs in the upper limbs, and the presence of significant cord compression on the MR imaging. Patient outcome after central corpectomy is good and long lasting.

scholarly journals The Analysis of the Preventive Nursing of Infection after Orthopedic Operation

2015 ◽  
Vol 4 (1) ◽  
pp. 9
Author(s):  
Min Ai
Keyword(s):  
Spinal Cord ◽  
Lower Limbs ◽  
Upper Limbs ◽  
Isolation System ◽  
Clinical Nursing ◽  
Factors Influencing ◽  
Orthopedic Operation

<p><strong>Objective:</strong> To explore the preventive nursing methods of infection after orthopedic operation and provide some basis for clinical nursing. <strong>Method: </strong>1000 patients who have received orthopedic operations are selected randomly from our hospital from September 2009 to September 2014, then we make follow-up and survey, analyze the factors influencing infection and implement corresponding nursing measures. <strong>Result:</strong> Among the 1000 patients, 26 patients have incision infection of sterile operation and the infected positions are on spinal cord, upper limbs and lower limbs. Surveys find that after orthopedic operation, infection patients are mostly infected 3-4 weeks after being hospitalized with the earliest infection occurring after one week after being hospitalized. We can find that the longer patients are hospitalized for, the higher the occurrence of infection is. <strong>Conclusion: </strong>In the preventive nursing of infection after orthopedic operation, sterile operation and preoperative, intraoperative and postoperative nursing should be remembered. And the most important one is to adopt sterilization and isolation system after orthopedic operation to lower the occurrence of infection to the lowest.</p>

scholarly journals Hyperacute tetraparesis with fasciculations as an initial manifestation of secondary hyperkalemic paralysis: a case report

2021 ◽  
Author(s):  
Tulio Marcos Coimbra ◽  
Sara Terrim ◽  
Guilherme Diogo Silva
Keyword(s):  
Case Report ◽  
Lupus Erythematosus ◽  
Lower Limbs ◽  
Cervical Region ◽  
Upper Limbs ◽  
Limb Weakness ◽  
Initial Manifestation ◽  
Complete Reversal ◽  
Grade Ii

Context: Acute flaccid paralysis (AFP) is characterized by progressive weakness with signs of impairment of the lower motoneuron. Secondary hyperkalemic paralysis is a cause of AFP that must be quickly recognized to prevent cardiac and neurological deterioration. Case report: We present a 69-years-old man admitted to the emergency department due to hyperacute weakness. The patient walked normally to the hospital’s laboratory, where he sat down to wait for the collection of laboratory exams for the investigation of a thrombocytopenia. He was unable to get up from his chair when he was asked to collect the exams. The neurological examination showed symmetrical tetraparesis. Weakness was proximal grade II and distal grade III in the lower limbs. Upper limb weakness was grade IV. Reflexes were abolished in lower limbs and hypoactive in upper limbs. The sensitivity and cranial pairs were normal. Our patient denied bladder or bowel complaints. He also presented intense fasciculations in the cervical region and in the proximal muscles of the upper limbs. Initial laboratory showed potassium of 9.3 mEq/dL. The correction of hyperkalemia led to a complete reversal of weakness and fasciculations. During hospitalization, the patient was diagnosed with systemic lupus erythematosus. Renal impairment led to hyperkalemia. Conclusions: Characterization of the motor examination, sensitivity and of reflexes allow the topographic diagnosis in AFPs. Secondary hyperkalemic paralysis manifests as symmetrical tetraparesis with a proximal predominance with hypoactive and abolished reflexes. Sensory examination is normal. The hyperacute manifestation and the presence of fasciculations reinforce this diagnosis as the cause of AFP.

scholarly journals Workshop: Twins: a powerful study design to examine the role of genetics and environment for work incapacity

2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  
Keyword(s):  
Risk Factors ◽  
Environmental Factors ◽  
Sick Leave ◽  
Disability Pension ◽  
Twin Studies ◽  
Public Health Research ◽  
Twin Design ◽  
Genetic And Environmental Factors

Abstract Twin design is an important tool to analyze the role of genetic and environmental factors, and to better understand causal mechanisms in public health research. Twin studies have reliably shown that genetic factors are important not only for physiological traits but also for psychological and health behavioral traits as well as for health-related work incapacity in terms of sick leave and disability pension. As many countries face an aging workforce, it is becoming ever more important to understand the underlying causes of work incapacity across the entire working life. In the past decade, twin data in combination with national register data have been used to deepen our understanding of the role of genetic and environmental influences on the complex processes of sick leave and disability pension. The aim of this workshop is to present and discuss methods and results of studies based on the large Swedish, Finnish and Norwegian twin cohorts. Linear structural equations are intensively utilized in modern methods of twin studies. A variety of models are available to answer different research questions, such as the dynamics behind associations between traits and developmental processes in longitudinal designs - models also applicable in health at work and social security. Further, analyzing twin pairs discordant for an outcome or risk factor (co-twin control) provides a unique possibility to control for familial (genetic and shared environmental) factors, since cases and controls are matched optimally being twins. Findings based on twin cohorts suggest that familial factors are relevant to many risk factors as well as for work incapacity. By controlling for these unobserved confounding factors, the co-twin control design may provide more accurate estimates of risk factors for work incapacity and complement the epidemiological findings of unrelated subjects. Based on population-based twin cohort studies with long follow-up, indications also exist that familial confounding may have different roles in the associations between risk factors and work incapacity. For example, in regard to various disability pension diagnosis groups and depending on study designs (one vs. two time points, longer vs. shorter follow-up etc.). Results from prospective studies on various risk factors, including adolescents’ mental health problems, for future sick leave and disability pension will be presented. Another presentation focuses on the stability and change in genetic and environmental factors influencing work incapacity from age 18 until retirement and the likelihood of causality between educational attainment, lifestyle and work incapacity. Finally, results on adverse outcomes of sick leave due to mental disorders using an open cohort design adjusting for familial factors will be presented. During the time of rapid development in molecular genetics, the twin study design has maintained its importance and will continue to cast light on different aspects of work incapacity. Key messages Twin design offers a unique tool in public health research to examine and control for familial (genetic and shared environmental) factors. Genetic factors seem to play an important role in understanding the complex causes of work incapacity in terms of sick leave and disability pension.

scholarly journals Double orifice mitral valve: A case report

2016 ◽  
Vol 73 (5) ◽  
pp. 496-499
Author(s):  
Ljilja Music ◽  
Bozidarka Knezevic ◽  
Ljiljana Jovovic ◽  
Nebojsa Bulatovic
Keyword(s):  
Case Report ◽  
Mitral Valve ◽  
Mitral Stenosis ◽  
Fibrous Tissue ◽  
Bundle Branch Block ◽  
Functional Changes ◽  
Mitral Orifice ◽  
Sport Activities ◽  
Double Orifice

Introduction. Double orifice mitrol valve (DOMV) is a very rare congenital heart defect. Case report. We reported 20-year-old male referred to our center due to evaluation of his cardiologic status. He was operated on shortly after birth for a tracheoesophageal fistula. Accidentally, echocardiography examination at the age of 4 years revealed double orifice mitral valve (DOMV) without the presence of mitral regurgitation, as well as mitral stenosis, with normal dimensions of all cardiac chambers. The patient was asymptomatic, even more he was a kick boxer. His physical finding was normal. Electrocardiography showed regular sinus rhythm, incomplete right bundle branch block. Transthoracic echocardiography (TTE) examination revealed the normal size of the left atrial, mitral leaflets were slightly more redundant. The left and right heart chambers, aorta, tricuspid valve and pulmonary artery valve were normal. During TTE examination on a short axis view two asymmetric mitral orifices were seen as a double mitral orifice through which we registered normal flow, without regurgitation and mitral stenosis. Transesophageal echocardiography (TEE) examination from the transgastric view at the level of mitral valve, showed 2 single asymmetric mitral orifices separated by fibrous tissue, mitral leaflet with a separate insertion of hordes for each orifice. Conclusion. The presented patient with DOMV is the only one recognized in our country. The case is interesting because during 16-year a follow-up period there were no functional changes despite the fact that he performed very demanded sport activities. This is very important because there is no information in the literature about that.

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