Polyneuropathy, organomegaly, endocrinopathy, M-protein, skin changes syndrome with dilated cardiomyopathy: A case report

BACKGROUND Polyneuropathy,organomegaly,endocrinopathy,M-protein,skin changes(POEMS)syndrome is a rare paraneoplastic syndrome that encompass multiple systems.The most common clinical symptoms of POEMS syndrome are pro-gressive sensorimotor polyneuropathy,organ enlargement,endocrine disorders,darkening skin,a monoclonal plasma cell proliferative disorder,and lymph node hyperplasia.The organomegaly consists of hepatosplenomegaly and/or lym-phadenopathy;cases of cardiomyopathy are rare.Diagnoses are often delayed because of the atypical nature of the syndrome,exposing patients to possibly severe disability.Therefore,identifying atypical symptoms can improve the prognosis and quality of life among POEMS syndrome patients.lenalidomide and dexamethasone.CONCLUSION When patients with cardiomyopathy have systemic manifestations such as numb limbs and darkening skin,the POEMS syndrome is the most possible diagnosis.

Intensive care unit-acquired weakness and mechanical ventilation:A reciprocal relationship

Intensive care unit-acquired weakness(ICU-AW;ICD-10 Code:G72.81)is a syndrome of generalized weakness described as clinically detectable weakness in critically ill patients with no other credible cause.The risk factors for ICU-AW include hyperglycemia,parenteral nutrition,vasoactive drugs,neuromuscular blocking agents,corticosteroids,sedatives,some antibiotics,immobilization,the disease severity,septicemia and systemic inflammatory response syndrome,multiorgan failure,prolonged mechanical ventilation(MV),high lactate levels,older age,female sex,and pre-existing systemic morbidities.There is a definite association between the duration of ICU stay and MV with ICU-AW.However,the interpretation that these are modifiable risk factors influencing ICU-AW,appears to be flawed,because the relationship between longer ICU stays and MV with ICU-AW is reciprocal and cannot yield clinically meaningful strategies for the prevention of ICU-AW.Prevention strategies must be based on other risk factors.Large multicentric randomized controlled trials as well as meta-analysis of such studies can be a more useful approach towards determining the influence of these risk factors on the occurrence of ICU-AW in different populations.

Intensive care unit-acquired weakness–preventive,and therapeutic aspects;future directions and special focus on lung transplantation

In this editorial,comments are made on an interesting article in the recent issue of the World Journal of Clinical Cases by Wang and Long.The authors describe the use of neural network model to identify risk factors for the development of intensive care unit(ICU)-acquired weakness.This condition has now become common with an increasing number of patients treated in ICUs and continues to be a source of morbidity and mortality.Despite identification of certain risk factors and corrective measures thereof,lacunae still exist in our understanding of this clinical entity.Numerous possible pathogenetic mechanisms at a molecular level have been described and these continue to be increasing.The amount of retrievable data for analysis from the ICU patients for study can be huge and enormous.Machine learning techniques to identify patterns in vast amounts of data are well known and may well provide pointers to bridge the knowledge gap in this condition.This editorial discusses the current knowledge of the condition including pathogenesis,diagnosis,risk factors,preventive measures,and therapy.Furthermore,it looks specifically at ICU acquired weakness in recipients of lung transplantation,because–unlike other solid organ transplants-muscular strength plays a vital role in the preservation and survival of the transplanted lung.Lungs differ from other solid organ transplants in that the proper function of the allograft is dependent on muscle function.Muscular weakness especially diaphragmatic weakness may lead to prolonged ventilation which has deleterious effects on the transplanted lung–ranging from ventilator associated pneumonia to bronchial anastomotic complications due to prolonged positive pressure on the anastomosis.

Advancing critical care recovery:The pivotal role of machine learning in early detection of intensive care unit-acquired weakness

This editorial explores the significant challenge of intensive care unit-acquiredweakness(ICU-AW),a prevalent condition affecting critically ill patients,characterizedby profound muscle weakness and complicating patient recovery.Highlightingthe paradox of modern medical advances,it emphasizes the urgent needfor early identification and intervention to mitigate ICU-AW's impact.Innovatively,the study by Wang et al is showcased for employing a multilayer perceptronneural network model,achieving high accuracy in predicting ICU-AWrisk.This advancement underscores the potential of neural network models inenhancing patient care but also calls for continued research to address limitationsand improve model applicability.The editorial advocates for the developmentand validation of sophisticated predictive tools,aiming for personalized carestrategies to reduce ICU-AW incidence and severity,ultimately improving patientoutcomes in critical care settings.

伴发脑梗死的POEMS综合征1例并文献复习

POEMS综合征是一种以多发性周围神经病变（polyneuropathy）、脏器肿大（organomegaly）、内分泌病变（endocrinopathy）、单克隆球蛋白（monoclonal gammopathy M）和皮肤改变（skin changes S）为主要特征的克隆性浆细胞病,临床上合并脑梗死较少见。现报告1例伴发脑梗死的POEMS综合征,以提高临床上对该病的认识。

牡丹染色体组型分析

牡丹染色体组型分析侯启昌牡丹（ｐ．ｓｕｆｆｒｕｔｉｃｏｓａ）同毛英目（Ｒａｎａｌｅｓ）、芍药科（Ｐａｅｏｎｉａｃｅａｅ）、芍药用（Ｐａｅｏｎｉａ），原产我国西北地区，原始种为矮牡丹（ＰａｅｏｎｉａＳｕｆｆｒｕｔｉｃｏｓａＶａｒ．Ｓｐｏｎｔａｎｅａ），...

Critical illness polyneuropathy and myopathy:a systematic review

Critical illness polyneuropathy and critical illness myopathy are frequent complications of severe illness that involve sensorimotor axons and skeletal muscles, respectively. Clinically, they manifest as limb and respiratory muscle weakness. Critical illness polyneuropathy/myopathy in isolation or combination increases intensive care unit morbidity via the inability or difficulty in weaning these patients off mechanical ventilation. Many patients continue to suffer from decreased exercise capacity and compromised quality of life for months to years after the acute event. Substantial progress has been made lately in the understanding of the pathophysiology of critical illness polyneuropathy and myopathy. Clinical and ancillary test results should be carefully interpreted to differentiate critical illness polyneuropathy/myopathy from similar weaknesses in this patient population. The present review is aimed at providing the latest knowledge concerning the pathophysiology of critical illness polyneuropathy/myopathy along with relevant clinical, diagnostic, differentiating, and treatment information for this debilitat- ing neurological disease.

First case of cross-auxiliary double domino donor liver transplantation

We report a case of double domino liver transplantation in a 32-year-old woman who was diagnosed with familial amyloid polyneuropathy(FAP) and liver dysfunction. A two-stage surgical plan was designed, and one domino graft was implanted during each stage. During the firststage, an auxiliary domino liver transplantation was conducted using a domino graft from a 4-year-old female child with Wilson's disease. After removing the right lobe of the FAP patient's liver, the graft was rotated 90 degrees counterclockwise and placed along the right side of the inferior vena cava(IVC). The orifices of the left, middle, and right hepatic veins were reconstructed using an iliac vein patch and then anastomosed to the right side of the IVC. Thirty days later, a second domino liver graft was implanted. The second domino graft was from a 3-yearold female child with an ornithine carbamyl enzyme defect, and it replaced the residual native liver(left lobe). To balance the function and blood flow between the two grafts, a percutaneous transcatheter selective portal vein embolization was performed, and "the left portal vein" of the first graft was blocked 9 mo after the second transplantation. The liver function indices, blood ammonia, and 24-h urinary copper levels were normal at the end of a 3-year follow-up. These two domino donor grafts from donors with different metabolic disorders restored normal liver function. Our experience demonstrated a new approach for resolving metabolic disorders with domino grafts and utilizing explanted livers from children.

CLINICAL AND GENETIC ANALYSIS OF THREE FAMILIES WITH FAMILIAR AMYLOID POLYNEUROPATHY

Objective To study the clinical and genetic features of familiar amyloid polyneuropathy (FAP). Methods Three families of suspected FAP in China mainland and Macao were investigated on aspects of clinical manifestations, histological features, and gene analysis. Results All the 3 families had the clinical features of sensory and motor polyneuropathies, and notable vegetative nerve involvements. Affected cases of one family had ultrasound proved cardiomyopathy. Histological studies showed amyloid deposition in all the biopsy tissues of the affected cases of the 3 families, and anti-transthyretin antisera staining was positive in 3 cases of one family. Gene analysis confirmed that mutation types were amyloidogenic transthyretin (ATTR) Val30Met, Phe33Val, and Gly67Glu in the 3 families respectively. The ATTR Gly67Glu family had a shorter survival time due to the heart involvement compared with the other 2 families. Conclusion FAP is an autosomal dominant inherited disease, with its clinical manifestations related to the type of genetic mutation.

部分纤维肌痛症患者存在小纤维多神经病变的客观依据

1.背景介绍纤维肌痛综合征（fibromyalgia syndrome,FMS）是一组包括慢性广泛性疼痛（chronic widespread pain,CWP）在内的疾病综合征,在西方国家的发病率为1%~5%,女性患病率是男性的3~4倍。FMS的生物学病因至今尚未明确。小纤维多神经病（small-fiber polyneuropathy,SFPN）是一种导致CWP的神经病学病因。与FMS不同的是,SFPN具有明确的病理生理及病因,因而明确是一种疾病。

Current and future applications of ultrasound imaging in peripheral nerve disorders

Neuromuscular ultrasound(NMUS) is a rapidly evolving technique used in neuromuscular medicine to provide complimentary information to standard electrodiagnostic studies. NMUS provides a dynamic, real time assessment of anatomy which can alter both diagnostic and management pathways in peripheral nerve disorders. This review describes the current and future techniques used in NMUS and details the applications and developments in the diagnosis and monitoring of compressive, hereditary, immune-mediated and axonal peripheral nerve disorders, and motor neuron diseases. Technological advances have allowed the increased utilisation of ultrasound for management of peripheral nerve disorders;however, several practical considerations need to be taken into account to facilitate the widespread uptake of this technique.

FAMILIAL AMYLOID POLYNEUROPATHY──CLINICAL REPORT OF A FAMILY

This paper reports a familial amyloid polyneuropathy (FAP) family in China. This family being investigated had 69 members of five generations. From the third generation, there have been 16 patients. The age of onset was about 3 to 5 decades. The initial symptoms were autonomic nerve symptoms, such as impotence, dyspepsia and diarrhoea, associated with the sensory loss of lower extremities. As the disease progressed, the upper extremities and motor ability were also involved. The duration of disease course was about 8-10 years, most patients died of infection and cachexia. Sural biopsy in 3 patients had showed positive Congo red staining. From the clinical view, this FAP family is similar to FAP I found in Japan. The true classification, however, should be confirmed by further genetic analysis.

Pericarditis and chronic inflammatory demyelinating polyneuropathy during therapy with pegylated interferon alfa-2a for chronic hepatitis C

We report a case of pericarditis and chronic inflam- matory demyelinating polyneuropathy with biological signs of a lupus-like syndrome due to pegylated interferon alfa-2a therapy during treatment for chronic hepatitis C.The patient developed moderate weakness in the lower limbs and dyspnea.He was hospitalized for congestive heart failure.An electrocardiogram showed gradual ST-segment elevation in leads V1 through V6 without coronary artery disease.A transthoracic cardiac ultrasonographic study revealed moderate pericardial effusion with normal left ventricular function.Anti-DNA antibody and anti-ds DNA IgM were positive.Neu ro logical examination revealed a symmetrical predomina ntly sensory polyneuropathy with impairment of light touch and pin prick in globe and stoking-like distribution.Treatment with prednisolone improved the pericarditis and motor nerve disturbance and the treatment with intravenous immunoglobulin improved the sensory nerve disturbance.

De novo intraocular amyloid deposition after hepatic transplantation in familial amyloidotic polyneuropathy

The familiar amyloid polyneuropathy(FAP) is a rare autosomal-dominant systemic amyloidosis. Amyloid deposition occurs more frequently and extensively in the vitq. The increase in intraocular pressure(IOP) is a result of deposition of transthyretin(TTR) in trabecular meshwork. Rarely, the amyloid deposition in anterior segment can be more exuberant than in posterior segment. A 42 years old man, with FAP(Val30Met mutation), liver transplantation in 1997. He was asymptomatic, without any significant ocular abnormality until 2011. In 2011 he had an episode of pain in right eye(RE). Scalloped pupils, pupillary amyloid deposits and subtle vitreous opacities were detected. The IOP was 40 mmHg in RE and 28 mmHg in left eye(LE) with open angle. Optical coherence tomography detected a temporal superior retinal nerve fiber layer defect in LE and perimetry was normal. Topical timolol was initiated, and brimonidine was subsequently added to improve IOP control, which was achieved with topical medication until last evaluation. No progression occurred since 2011. Actually, with longer life expectancies, there is an increased risk of ocular involvement in FAP, even after liver transplantation. Although rare, a more exuberant amyloid deposition in anterior segment vs posterior segment can occur, and supports an important role of amyloid production in ciliary pigment epithelium in these patients. Medical control of IOP and a stable course are unusual in this secondary glaucoma. Ophthalmologists have an important task in the follow-up of patients and early diagnosis of risk factors for secondary glaucoma, such as scalloped pupils with amyloid deposits.

Conductive hearing loss in chronic inflammatory demyelinating polyneuropathy(CIDP):A case report

Chronic inflammatory demyelinating polyneuropathy(CIDP) is a progressive autoimmune disorder that targets peripheral nerves. It commonly presents with motor-predominant dysfunction and enlargement of cranial nerves. With regards to hearing loss, a few cases of sensorineural loss have been described. We present a novel case of conductive hearing loss caused by a mass on the tympanic segment of the facial nerve in the setting of CIDP.

Nerve biopsy findings contribute to diagnosis of multiple mononeuropathy: 78% of findings support clinical diagnosis

Multiple mononeuropathy is an unusual form of peripheral neuropathy involving two or more nerve trunks. It is a syndrome with many different causes. We reviewed the clinical, electrophysi- ological and nerve biopsy findings of 14 patients who suffered from multiple mononeuropathy in our clinic between January 2009 and June 2013. Patients were diagnosed with vasculitic neurop- athy （n = 6）, perineuritis （n = 2）, chronic inflammatory demyelinating polyradiculoneuropathy （n = 2） or Lewis-Sumner syndrome （n = 1） on the basis of clinical features, laboratory data, elec- trophysiological investigations and nerve biopsies. Two patients who were clinically diagnosed with vasculitic neuropathy and one patient who was clinically diagnosed with chronic inflamma- tory demyelinating polyradiculoneuropathy were not confirmed by nerve biopsy. Nerve biopsies confirmed clinical diagnosis in 78.6% of the patients （11/14）. Nerve biopsy pathological diagno- sis is crucial to the etiological diagnosis of multiple mononeuropathy.

Effective treatment of polyneuropathy,organomegaly,endocrinopathy,M-protein,and skin changes syndrome with congestive heart failure:A case report

BACKGROUND Polyneuropathy,organomegaly,endocrinopathy,M-protein,and skin changes(POEMS)syndrome is a rare paraneoplastic syndrome caused by a plasma cell proliferative disorder.The syndrome is characterized by elevated plasma cells,platelets,and vascular endothelial growth factor levels.Although heart disease rarely occurs in POEMS syndrome,the death rate increases sharply after heart failure.We report a patient who initially presented with an endocrine disease and developed congestive heart failure related to POEMS syndrome 9 years later.CASE SUMMARY A 23-year-old woman with no history of menstruation and a 9-year history of type I diabetes reported feeling breathless after activities.She could not lie down and rest at night.Three months prior,she experienced pain and increased tension in her left thigh accompanied by tenderness and edema in both lower extremities.The chief complaint upon hospital admission was that blood sugar has increased for more than 9 years,pain in the left thigh,and edema in both legs for more than 2 mo.After a multisystem evaluation,she was diagnosed with POEMS syndrome.Her echocardiogram showed left ventricular dilation with systolic dysfunction,and the left ventricular ejection fraction was only 38%with severely elevated brain natriuretic peptide.She received a combination of dexamethasone and thalidomide for 1 mo,but her symptoms did not improve.Therefore,we added a two-per-week bortezomib injection.After 2 wk,the patient’s heart function had improved significantly.CONCLUSION This case provides information about the treatment of POEMS syndrome with complications and highlights the challenges of developing a standardized treatment.

A prospective, open label, 24-week trial of methylcobalamin in the treatment of diabetic polyneuropathy

Introduction: Vitamin B complex has been used for peripheral neuropathy for a long time and continues to be part of current practice despite lack of strong evidence for its use and its non-inclusion in treatment guidelines. Objective: To determine the clinical and neurophysiological effects of 1500 μgm/day of oral methylcobalamin among subjects with diabetic polyneuropathy. Methodology: We conducted a prospective, open-label study on adult diabetic subjects with polyneuropathy who were given 1500 μgm/day of oral methylcobalamin over 24-weeks. The primary outcome measure was the Toronto Clinical Scoring System (CSS) and secondary measures were Subjective Impression of Change, Clinicians Impression of Change and neurophysiological parameters. Results: Out of forty eight subjects, thirty seven completed treatment and twenty one agreed to have repeat neurophysiologic study post-treatment. At the end of treatment, there was a significant decline in the Toronto CSS score (p < 0.0001) indicating improvement. This was observed across all stages of severity and in any duration of diabetes whether more or less than 10 years. The symptoms that improved compared to baseline and that did not emerge over the course of 24 weeks were tingling (p < 0.03), upper limb symptoms (p < 0.003), ataxia (p < 0.004), and signs of impaired position (P < 0.009) sense, vibration sense (p < 0.0001), pinprick sensation (p < 0.004) and knee reflex (p < 0.004). No significant improvement was seen in the secondary outcomes (both p=0.06) except for ulnar nerve amplitude and distal latency. Conclusion: This 24-week open label study demonstrated that symptoms of diabetic polyneuropathy significantly improved among subjects given methylcobalamin 1500 μgm/day and new symptoms did not emerge over the 24 week observation period. Larger controlled trials are needed to corroborate these findings.

Guillain-Barre syndrome associated with peginterferon alfa-2a for chronic hepatitis C: A case report

The recommended therapy for chronic hepatitis C (CHC) infection is the combination of a Pegylated interferon and Ribavirin. Almost all such patients on combination therapy experience one or more adverse events during the course of treatment. Significant neurological side effects are rare. A few cases of Bell's Palsy, chronic inflammatory demyelinating polyneuropathy and even one case of acute demyelinating polyneuropathy with atypical features for Guillain-Barre syndrome (GBS) associated with Interferon therapy have been reported but no report of GBS with typical features has been published. We present a case report of typical GBS associated with Peginterferon alfa-2a and Ribavirin used for treatment of CHC infection.

多发性神经病和正常腓肠神经反射患者的背内侧腓浅神经的研究

We studied medial dorsal superficial peroneal (MDSP) nerves in 52 patients wit h clinical evidence of mild chronic sensorimotor polyneuropathy and normal sural nerve responses, in order to assess the diagnostic sensitivity and usefulness o f MDSP nerve testing in electrodiagnostic practice. To determine the effect of a ge on MDSP nerve parameters, 98 normal subjects were also examined. Electrodiagn ostic evaluation involved studies of motor nerve conduction in tibial, peroneal, and median nerves;sensory nerve conduction in sural, MDSP, median, and radialne rves; tibial and peroneal nerve F waves; H reflexes from the soleus muscles; and needle electromyography of gastrocnemius and abductor hallucis muscles. Among t he patients, 49%had low-amplitude sensory responses in MDSP nerves and 57%had either slowing of sensory conduction velocity or no sensory responseson proxima l stimulation. MDSP nerve amplitude, tibial nerve motor velocity, and H reflexes were the most sensitive for detection of mild chronic symmetrical axonal sensor imotor polyneuropathy. MDSP nerve testing should be included in the routine elec trodiagnostic evaluation of patients with suspected polyneuropathy and normal su ral nerve responses.