scholarly journals Clinical Features of Familial Amyloidotic Polyneuropathy With Transthyretin p.Ala117Ser Mutation in Mainland China

Author(s):  
Yeli Zhu ◽  
Xiying Zhu ◽  
Wei Li ◽  
Zhaoyong Zhang ◽  
Hui Zheng ◽  
...  

Abstract Objective: Our study aimed to report the clinical features of ATTR-PN with TTR p.Ala117Ser mutation in mainland China. Methods: Thirteen patients from 13 different families diagnosed with p.Ala117Ser ATTR-PN were identified from three centres. Clinical and laboratory data were retrospectively retrieved for analysis. Results: The male/female ratio was 11:2. All patients showed late onset, with the age of onset at 57.8 ± 5.8 years. The initial symptom was numbness of the lower or upper extremities in 9 patients (69.2%). Paraesthesia was present in all patients. Eleven patients (84.6%) had autonomic dysfunction. Cardiac, renal, hepatic, and ocular dysfunctions were noted in 8 (61.5%), 1 (7.7%), 2 (15.4%), and 3 (23.1%) patients, respectively. Nerve conduction studies have shown axonal-type sensorimotor polyneuropathy. The decline in sensory nerve action potentials was more noticeable than in compound muscle action potentials. The nerve damage present in the lower limbs was more severe than that in the upper limbs. Nerve biopsy revealed positive Congo red staining in 7/10 patients (70%). Conclusion: Our study is the largest population report on this rare p.Ala117Ser mutation in mainland China.

2018 ◽  
Vol 10 (1) ◽  
Author(s):  
Seidu A. Richard ◽  
Zhi Gang  Lan ◽  
Xiao Yang ◽  
Siqing Huang

Atlantoaxial dislocation is a disorder that is characterized with loss of stability of the atlas and axis (C1-C2) with consequential loss of usual articulation. Although this condition is very common, no one has reported a case as young as our patients. We present a 7-month infant with bilateral paralysis of the lower limbs for four (4) months with no history of trauma. Computer tomographic (CT-scan) imaging revealed alantoaxial dislocation with severe cervical spinal cord compression. The odontoid process is displaced outwardly with no bone destruction. Doppler echocardiogram done revealed patent foramen ovale. Thorough physical examination as well as radiological evaluation revealed no feather malformations. Electrophysio - logical studies reveal normal compound muscle action potentials (CMAP) and sensory nerve action potentials (SNAPs) in all the limbs. Electromyography (EMG) also revealed normal nerves in the limbs and the trunk. We attained a stable fusion and anatomical reduction using a posterior titanium wire and an iliac bone graft harvested from his mother. This is the youngest patient reported in literature. Infantile alantoaxial dislocation should be managed at early stage to prevent long-term neurologic disorders.


2020 ◽  
Vol 12 (3) ◽  
pp. 482-488
Author(s):  
Ritwik Ghosh ◽  
Souvik Dubey ◽  
Subhankar Chatterjee ◽  
Biman Kanti Ray ◽  
Julián Benito-León

Cerebral manifestations in Japanese B encephalitis are well known. However, there are very few studies focusing on extra-cerebral manifestations, among which focal anterior horn cell involvement is exceedingly rare. We herein report a case of Japanese B encephalitis with focal anterior horn cell involvement and unfurl how stepwise clinical approach and targeted investigations helped to solve the diagnostic conundrum. A 27-year-old female was admitted with fever, headache, altered sensorium, and convulsions. She tested positive for Japanese B encephalitis-IgM. Following conservative management, she regained consciousness after 5 days when neurological examination revealed marked cognitive impairment, medial convergence of eyeballs, upward gaze restriction, upper limbs dystonia with brisk tendon jerks, and flaccid paraparesis. A repeat neurological examination, on day 15 of admission, showed marked wasting and intermittent fasciculation in both lower limbs. Brain magnetic resonance imaging showed asymmetrical (right > left) bilateral thalamic and midbrain lesions, hyperintense on T2 and T2-fluid-attenuated inversion recovery (FLAIR)-weighted imaging with mild diffusion restriction on diffusion-weighted imaging and apparent diffusion coefficient map, suggestive of encephalitis . Nerve conduction study revealed decreased compound muscle action potentials exclusively in lower limbs with intact sensory nerve action potentials. Electromyogram showed chronic denervation potentials and presence of spontaneous activity in lower limbs, but not in upper limbs, indicative of focal anterior horn cell involvement. Prognosis of Japanese B encephalitis does not only depend on cerebral sequelae. Anterior horn cell involvement can dictate poor outcome and can easily be missed if not carefully dealt with.


2016 ◽  
pp. 292-311
Author(s):  
Eric J. Sorenson

Sensory nerve action potentials (SNAPs) are an important component of an electrodiagnostic test of peripheral nerves and can localize lesions either proximal or distal to the dorsal root ganglia. They are among the most sensitive measures of peripheral nerve dysfunction, and can provide information about the pathophysiology of the neuropathy, suggesting demyelination or axonal loss in some cases. Because SNAPs are much smaller than compound muscle action potentials, they are technically more difficult to study. Temperature will have a greater impact on SNAPs than motor potentials, with cooler limb temperatures leading to longer latencies, slower conduction velocities, and larger amplitudes. Responses are commonly averaged 3 to 5 times to minimize the effect of the background noise on the waveforms. Distance from the electrical generator and inter-electrode distance will also impact the appearance and size of the nerve potential waveform. This chapter reviews the concepts and applications of sensory nerve action potentials and sensory nerve conduction studies.


2020 ◽  
Author(s):  
Chung-Yuan Liao ◽  
Jyh-Hong Lee ◽  
Li-Chieh Wang ◽  
Kuan-Wen Wu ◽  
Yu-Tsan Lin ◽  
...  

Abstract Background: Growing pains is a benign, non-inflammatory pain syndrome of childhood, characterized by bilateral recurrent leg pain. Studies regarding the clinical and laboratory profile of growing pains are limited, especially in East Asia. The aim of this study was to analyze the clinical features, laboratory findings, and follow-up of children with growing pains.Methods: Patients under 18 years of age with growing pains in National Taiwan University Children’s Hospital between April 2006 and April 2019 were enrolled. Clinical features, laboratory data and medication records were analyzed. Changes of body height and weight before and after the symptoms were assessed by the paired samples t-test.Results: After excluding 31 children with musculoskeletal diseases, 276 patients with a final diagnosis of growing pains were included, comprising 152 boys (55%) and 124 girls (45%). The mean age was 4.9 ± 2.7 years. Bilateral and lower limbs pain were present in 232 (84%) and all cases, respectively. There were 6 out of 16 patients (38%) with elevated alkaline phosphatase, and 3 out of 50 (6%) with positive antinuclear antibodies in low titers. There were no significant changes in body height and weight percentiles or z-scores at 0.5, 1, and 2 years after diagnosis, compared with baseline values. Symptomatic treatments were used in 33% of patients.Conclusions: Growing pains is a common benign leg pain syndrome in children. Alkaline phosphatase elevation is commonly detected. It is not associated with rapid changes of body height and weight within 2 years of experiencing growing pains.


2021 ◽  
Author(s):  
Ana Cláudia Pires Carvalho ◽  
Stella Angelis Trivellato ◽  
Guilherme Jardini Drumond Anastacio ◽  
Fernanda Rezende Dias ◽  
Luisa Crevelin Costa ◽  
...  

Introduction: Lambert-Eaton syndrome occurs due to the attack of autoantibodies to voltage-gated calcium channels in the presynaptic terminal of the neuromuscular junction and is usually paraneoplastic. Objectives: Describe the case of a patient with weakness which was investigated for neoplasm. Design and setting: Case report Methods: Analysis of medical record, photographic record of the diagnostic methods and literature review. Case description: Woman, 60 years old, diabetic, hypertensive and ex-smoker, with proximal weakness in the lower limbs for 4 months with paresthesia in the extremities. In 2 months she needed a cane due to frequent falls, followed by proximal weakness of the upper limbs. She lost 8 kg in 4 months. Neurological examination showed hypotrophy in thighs, proximal tetraparesis predominantly in lower limbs and global hyporeflexia. Electroneuromyography showed decreases to repetitive low-frequency stimulation, but significant increases with repetitive high-frequency stimulation and increased amplitude of compound muscle action potentials after effort, suggesting impairment of the neuromuscular junction in the presynaptic topography. She was diagnosed with LambertEaton syndrome. An investigation of paraneoplastic syndrome was carried out, with tumor markers, tomography of the chest, abdomen and pelvis, thyroid ultrasound, mammography and oncotic colposcopy, all without findings of neoplasia. It was proposed a treatment with human immunoglobulin and followup with physiotherapy, occupational therapy and psychology. She showed a significant improvement in strength after starting treatment. Conclusion: Patients with Lambert-Eaton syndrome should be investigated for an underlying neoplasm and followed up periodically, considering the possibility of cancer diagnosis even months or years after the neurological syndrome.


Author(s):  
Hasan Alwan Baiee ◽  
Weli Hatif

Dog bites are common and can affect victims of different ages.Dog bite injuries in children are a preventable health problem.Dog bites are a serious health problem that cause both physical and emotional damage to victims and considerable cost to communities. Studies on dog bites among Iraqi children were very scarce.This study focuses on theincidence,mechanisms,and epidemiologicalcircumstances ofdog biteinjuriesin a series of pediatric patients who sustained dog bites in emergency Room. MethodologyA cross sectional study was designed to studyall cases of dog bites attending the emergency room in AL-Showmely General Hospital located in the southern district – Babylon province-Iraq, during the period ; from the January, first,2017 through theend of March, 2018.Special constructed were prepared to collect data through interview of victims or their companions who attended the emergency section during this period,ethical clearances were obtained.*A total of 320 children presented to the hospital with dog bite injuries.The incidence rate of dog bites was 275 per 100000 population, the male to female ratio was 3:1.the most common dog bite injuries took place in September44 (13.75%). Injury rates were highest in those aged 0-4,declining thereafter with age. In the 6-10, year age group141 (44.1%), most of cases living in rural district (villages). The most affected location were lower limbs, only 3.4% of the injured children had completed the post exposure anti rabies vaccine. Dog bites are common health problem among children,Children who are younger than 10 years represent the high-risk group for dog attacks. very few of them had complete the prophylactic post exposure vaccine Therefore, prevention strategies should focus on public education,training health care providers and controlling stray dogs.


2017 ◽  
pp. 50-55
Author(s):  
Duc Luu Ngo ◽  
Tu The Nguyen ◽  
Manh Hung Ho ◽  
Thanh Thai Le

Background: This study aims to survey some clinical features, indications and results of tracheotomy at Hue Central Hospital and Hue University Hospital. Patients and method: Studying on 77 patients who underwent tracheotomy at all of departments and designed as an prospective, descriptive and interventional study. Results: Male-female ratio was 4/1. Mean age was 49 years. Career: farmer 44.2%, worker 27.2%, officials 14.3%, student 7.8%, other jobs 6.5%. Respiratory condition before tracheotomy: underwent intubation 62.3%, didn’t undergo intubation 37.7%. Period of stay of endotracheal tube: 1-5 days 29.2%, 6-14 days 52.1%, >14 days 18.7%. Levels of dyspnea before tracheotomy: level I 41.4%, level II 48.3%, level III 0%, 10.3% of cases didn’t have dyspnea. Twenty cases (26%) were performed as an emergency while fifty seven (74%) as elective produces. Classic indications (37.7%) and modern indications (62.3%). On the bases of the site, we divided tracheostomy into three groups: high (0%), mid (25.3%) and low (74.7%). During follow-up, 44 complications occurred in 29 patients (37.7%). Tracheobronchitis 14.3%, tube obstruction 13%, subcutaneous empysema 10.4%, hemorrhage 5%, diffcult decannulation 5.2%, tube displacement 3.9%, canule watery past 2.6%, wound infection 1.3%. The final result after tracheotomy 3 months: there are 33 patients (42.9%) were successfully decannulated. In the 33 patients who were successfully decannulated: the duration of tracheotomy ranged from 1 day to 90 days, beautiful scar (51.5%), medium scar (36.4%), bad scar (12.1%). Conclusions: In tracheotomy male were more than female, adult were more than children. The main indication was morden indication. Tracheobronchitis and tube obstruction were more common than other complications. Key words: Tracheotomy


2019 ◽  
Author(s):  
Waheed Atilade Adegbiji ◽  
Shuaib Kayode Aremu ◽  
AbdulAkeem Adebayo Aluko

BACKGROUND Issues of geriatric otolaryngologic emergency have not been widely applied despite increase in geriatric population. OBJECTIVE This study aimed at determining prevalence, sociodemographic features, aetiology, clinical features, Complications and sources ofreferral of geriatric otorhinolaryngological, head and neck emergency in our center. METHODS This was a prospective hospital based study of geriatric otorhinolaryngology emergency in the Ear, Nose and Throat Department of Ekiti State University Teaching Hospital. The study was carried out between October 2016 and September 2018. Data were obtained by using pretested interviewers questionnaire.All data were collated and analyzed using SPSS version 18.0. The data were expressed by frequency table, percentage, bar charts and pie charts. RESULTS Geriatric otorhinolaryngology, head and neck emergency accounted for 5.3%. Major prevalence age group was 43.9% in the age group (60-64). There were 38.6% males with male to female ratio of 1:1.5. The main aetiology of geriatric otorhinolaryngology emergency was 29.5% trauma/road traffic accident/foreign body impaction and 25.8% tumour. Main anatomical distribution of geriatric otorhinolaryngology emergency were 38.6% throat diseases and 31.1% ear diseases. The most frequent clinical features were pain in 27.3%, hearing loss in 21.2%, tinnitus in 15.9%, bleeding in 14.4%, difficulty breathing in 12.9% and discharge in 11.4%. Common diagnosis in this study were 15.9% sinonasal tumour, 14.4% upper aerodigestive foreign body impaction, 10.6% earwax impaction and 19.8% otitis externa. Acute presentation (<13 weeks) occurred in 1 week in 74.2% and 2-13 weeks In 19.7%. Commonest time of presentation was daytime in 65.9%. Major sources of referral were 43.2% general practitioner and 31.1% casualty officers. Presentation of geriatric otorhinolaryngology emergency were mainly ear, nose and throat clinic in 59.8% with accident and emergency in 28.8%. Commonest associated comorbid illnesses among the geriatric patients were 18.2% hypertension, 14.4% arthritis and 9.8% diabetes mellitus. CONCLUSIONS Geriatric otorhinolaryngological emergency are common pathology with associated with comorbid illnesses. Detailed clinical assessment are mandatory for effective management outcome.


2021 ◽  
pp. 329-333
Author(s):  
Kanako Kurihara ◽  
Jun Tsugawa ◽  
Shinji Ouma ◽  
Toshiyasu Ogata ◽  
Mikiko Aoki ◽  
...  

A 66-year-old woman with a history of bronchial asthma had shortness of breath and fatigue upon mild exercise. She was diagnosed as congestive heart failure. A blood test showed eosinophilia without the presence of anti-neutrophil cytoplasmic antibody (ANCA), and a myocardial biopsy specimen revealed eosinophilic infiltration in the myocardium. Eosinophilia was improved when she was administered short-term methylprednisolone. After that, she had numbness and pain in her lower limbs with re-elevation of eosinophils. She had dysesthesia and hypalgesia in the distal part of the limbs. Sural nerve biopsy revealed axonal degeneration and thickness of the arterial wall, indicating a diagnosis of eosinophilic granulomatosis with polyangiitis (EGPA). Two courses of steroid pulse therapy were performed, resulting in marked improvement of her sensory symptoms. ANCA-negative EGPA might be associated with myocarditis and peripheral neuropathy. A sufficient immunotherapy should have been considered to prevent rapid progression.


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